Loading…
SOBP Is Mutated in Syndromic and Nonsyndromic Intellectual Disability and Is Highly Expressed in the Brain Limbic System
Intellectual disability (ID) affects 1%–3% of the general population. We recently reported on a family with autosomal-recessive mental retardation with anterior maxillary protrusion and strabismus (MRAMS) syndrome. One of the reported patients with ID did not have dysmorphic features but did have te...
Saved in:
| Published in: | American journal of human genetics 2010-11, Vol.87 (5), p.694-700 |
|---|---|
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , |
| Format: | Article |
| Language: | English |
| Subjects: | |
| Citations: | Items that this one cites Items that cite this one |
| Online Access: | Get full text |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| cited_by | cdi_FETCH-LOGICAL-c643t-2c80d7d887f23b91267a5f534ff867c9dcf15ec90a106b2b06d64e1804dda3bf3 |
|---|---|
| cites | cdi_FETCH-LOGICAL-c643t-2c80d7d887f23b91267a5f534ff867c9dcf15ec90a106b2b06d64e1804dda3bf3 |
| container_end_page | 700 |
| container_issue | 5 |
| container_start_page | 694 |
| container_title | American journal of human genetics |
| container_volume | 87 |
| creator | Birk, Efrat Har-Zahav, Adi Manzini, Chiara M. Pasmanik-Chor, Metsada Kornreich, Liora Walsh, Christopher A. Noben-Trauth, Konrad Albin, Adi Simon, Amos J. Colleaux, Laurence Morad, Yair Rainshtein, Limor Tischfield, David J. Wang, Peter Magal, Nurit Maya, Idit Shoshani, Noa Rechavi, Gideon Gothelf, Doron Maydan, Gal Shohat, Mordechai Basel-Vanagaite, Lina |
| description | Intellectual disability (ID) affects 1%–3% of the general population. We recently reported on a family with autosomal-recessive mental retardation with anterior maxillary protrusion and strabismus (MRAMS) syndrome. One of the reported patients with ID did not have dysmorphic features but did have temporal lobe epilepsy and psychosis. We report on the identification of a truncating mutation in the
SOBP that is responsible for causing both syndromic and nonsyndromic ID in the same family. The protein encoded by the
SOBP, sine oculis binding protein ortholog, is a nuclear zinc finger protein. In mice, Sobp (also known as Jxc1) is critical for patterning of the organ of Corti; one of our patients has a subclinical cochlear hearing loss but no gross cochlear abnormalities. In situ RNA expression studies in postnatal mouse brain showed strong expression in the limbic system at the time interval of active synaptogenesis. The limbic system regulates learning, memory, and affective behavior, but limbic circuitry expression of other genes mutated in ID is unusual. By comparing the protein content of the
+/jc to
jc/jc mice brains with the use of proteomics, we detected 24 proteins with greater than 1.5-fold differences in expression, including two interacting proteins, dynamin and pacsin1. This study shows mutated
SOBP involvement in syndromic and nonsyndromic ID with psychosis in humans. |
| doi_str_mv | 10.1016/j.ajhg.2010.10.005 |
| format | article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2978971</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><els_id>S0002929710005215</els_id><sourcerecordid>764541165</sourcerecordid><originalsourceid>FETCH-LOGICAL-c643t-2c80d7d887f23b91267a5f534ff867c9dcf15ec90a106b2b06d64e1804dda3bf3</originalsourceid><addsrcrecordid>eNqFklFv0zAUhSMEYmXwB3hAERJCPKRcO7GdSAhpG4NWKgyp8Gw5ttM4SpxiJ9X673HWUmAP8GTr-LvH19cnip4jmCNA9G0zF029mWO4E-YA5EE0QyRlCaVAHkYzAMBJgQt2Fj3xvgFAKIf0cXSGEaQEAZlFt-uby6_x0sefx0EMWsXGxuu9Va7vjIyFVfGX3vqTsLSDblsth1G08QfjRWlaM-zvwGCyMJu63cfXt1unvT-4DbWOL50Iu5XpyuCx3vtBd0-jR5VovX52XM-j7x-vv10tktXNp-XVxSqRNEuHBMscFFN5ziqclgXClAlSkTSrqpwyWShZIaJlAQIBLXEJVNFMh2dmSom0rNLz6P3BdzuWnVZS28GJlm-d6YTb814Y_veJNTXf9DsexpYXDAWDNweD-l7Z4mLFJw0wyhAr8t3Evj5e5vofo_YD74yXYWLC6n70vCAZKRALf_Q_ktGMZAjRiXx5j2z60dkwM54DIxhwlgcIHyDpeu-drk6dIuBTWHjDp7DwKSyTFsISil78OZpTya90BODVERBeirZywkrjf3NpRgETFrh3B06Hj9wZ7biXRluplXEhK1z15l99_ATzONyW</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>807520248</pqid></control><display><type>article</type><title>SOBP Is Mutated in Syndromic and Nonsyndromic Intellectual Disability and Is Highly Expressed in the Brain Limbic System</title><source>BACON - Elsevier - GLOBAL_SCIENCEDIRECT-OPENACCESS</source><source>PubMed Central</source><creator>Birk, Efrat ; Har-Zahav, Adi ; Manzini, Chiara M. ; Pasmanik-Chor, Metsada ; Kornreich, Liora ; Walsh, Christopher A. ; Noben-Trauth, Konrad ; Albin, Adi ; Simon, Amos J. ; Colleaux, Laurence ; Morad, Yair ; Rainshtein, Limor ; Tischfield, David J. ; Wang, Peter ; Magal, Nurit ; Maya, Idit ; Shoshani, Noa ; Rechavi, Gideon ; Gothelf, Doron ; Maydan, Gal ; Shohat, Mordechai ; Basel-Vanagaite, Lina</creator><creatorcontrib>Birk, Efrat ; Har-Zahav, Adi ; Manzini, Chiara M. ; Pasmanik-Chor, Metsada ; Kornreich, Liora ; Walsh, Christopher A. ; Noben-Trauth, Konrad ; Albin, Adi ; Simon, Amos J. ; Colleaux, Laurence ; Morad, Yair ; Rainshtein, Limor ; Tischfield, David J. ; Wang, Peter ; Magal, Nurit ; Maya, Idit ; Shoshani, Noa ; Rechavi, Gideon ; Gothelf, Doron ; Maydan, Gal ; Shohat, Mordechai ; Basel-Vanagaite, Lina</creatorcontrib><description>Intellectual disability (ID) affects 1%–3% of the general population. We recently reported on a family with autosomal-recessive mental retardation with anterior maxillary protrusion and strabismus (MRAMS) syndrome. One of the reported patients with ID did not have dysmorphic features but did have temporal lobe epilepsy and psychosis. We report on the identification of a truncating mutation in the
SOBP that is responsible for causing both syndromic and nonsyndromic ID in the same family. The protein encoded by the
SOBP, sine oculis binding protein ortholog, is a nuclear zinc finger protein. In mice, Sobp (also known as Jxc1) is critical for patterning of the organ of Corti; one of our patients has a subclinical cochlear hearing loss but no gross cochlear abnormalities. In situ RNA expression studies in postnatal mouse brain showed strong expression in the limbic system at the time interval of active synaptogenesis. The limbic system regulates learning, memory, and affective behavior, but limbic circuitry expression of other genes mutated in ID is unusual. By comparing the protein content of the
+/jc to
jc/jc mice brains with the use of proteomics, we detected 24 proteins with greater than 1.5-fold differences in expression, including two interacting proteins, dynamin and pacsin1. This study shows mutated
SOBP involvement in syndromic and nonsyndromic ID with psychosis in humans.</description><identifier>ISSN: 0002-9297</identifier><identifier>EISSN: 1537-6605</identifier><identifier>DOI: 10.1016/j.ajhg.2010.10.005</identifier><identifier>PMID: 21035105</identifier><identifier>CODEN: AJHGAG</identifier><language>eng</language><publisher>Cambridge, MA: Elsevier Inc</publisher><subject>Adult and adolescent clinical studies ; Amino Acid Sequence ; Animals ; Base Sequence ; Biological and medical sciences ; Carrier Proteins - genetics ; Female ; Fundamental and applied biological sciences. Psychology ; Gene expression ; General aspects. Genetic counseling ; Genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Human genetics ; Humans ; Intellectual deficiency ; Intellectual disabilities ; Intellectual Disability - genetics ; Karyotyping ; Life Sciences ; Limbic System - metabolism ; Male ; Medical genetics ; Medical sciences ; Metalloproteins - genetics ; Mice ; Molecular and cellular biology ; Mutation ; Nuclear Proteins - genetics ; Pedigree ; Proteins ; Proteomics ; Psychology. Psychoanalysis. Psychiatry ; Psychopathology. Psychiatry ; Psychotic Disorders - genetics ; Ribonucleic acid ; RNA ; Rodents ; Studies ; Syndrome</subject><ispartof>American journal of human genetics, 2010-11, Vol.87 (5), p.694-700</ispartof><rights>2010 The American Society of Human Genetics</rights><rights>2015 INIST-CNRS</rights><rights>Copyright © 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.</rights><rights>Copyright Cell Press Nov 12, 2010</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><rights>2010 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2010 The American Society of Human Genetics</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c643t-2c80d7d887f23b91267a5f534ff867c9dcf15ec90a106b2b06d64e1804dda3bf3</citedby><cites>FETCH-LOGICAL-c643t-2c80d7d887f23b91267a5f534ff867c9dcf15ec90a106b2b06d64e1804dda3bf3</cites><orcidid>0000-0002-0987-7648</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2978971/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC2978971/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,315,733,786,790,891,27957,27958,53827,53829</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=23460257$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21035105$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://hal.science/hal-02141798$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Birk, Efrat</creatorcontrib><creatorcontrib>Har-Zahav, Adi</creatorcontrib><creatorcontrib>Manzini, Chiara M.</creatorcontrib><creatorcontrib>Pasmanik-Chor, Metsada</creatorcontrib><creatorcontrib>Kornreich, Liora</creatorcontrib><creatorcontrib>Walsh, Christopher A.</creatorcontrib><creatorcontrib>Noben-Trauth, Konrad</creatorcontrib><creatorcontrib>Albin, Adi</creatorcontrib><creatorcontrib>Simon, Amos J.</creatorcontrib><creatorcontrib>Colleaux, Laurence</creatorcontrib><creatorcontrib>Morad, Yair</creatorcontrib><creatorcontrib>Rainshtein, Limor</creatorcontrib><creatorcontrib>Tischfield, David J.</creatorcontrib><creatorcontrib>Wang, Peter</creatorcontrib><creatorcontrib>Magal, Nurit</creatorcontrib><creatorcontrib>Maya, Idit</creatorcontrib><creatorcontrib>Shoshani, Noa</creatorcontrib><creatorcontrib>Rechavi, Gideon</creatorcontrib><creatorcontrib>Gothelf, Doron</creatorcontrib><creatorcontrib>Maydan, Gal</creatorcontrib><creatorcontrib>Shohat, Mordechai</creatorcontrib><creatorcontrib>Basel-Vanagaite, Lina</creatorcontrib><title>SOBP Is Mutated in Syndromic and Nonsyndromic Intellectual Disability and Is Highly Expressed in the Brain Limbic System</title><title>American journal of human genetics</title><addtitle>Am J Hum Genet</addtitle><description>Intellectual disability (ID) affects 1%–3% of the general population. We recently reported on a family with autosomal-recessive mental retardation with anterior maxillary protrusion and strabismus (MRAMS) syndrome. One of the reported patients with ID did not have dysmorphic features but did have temporal lobe epilepsy and psychosis. We report on the identification of a truncating mutation in the
SOBP that is responsible for causing both syndromic and nonsyndromic ID in the same family. The protein encoded by the
SOBP, sine oculis binding protein ortholog, is a nuclear zinc finger protein. In mice, Sobp (also known as Jxc1) is critical for patterning of the organ of Corti; one of our patients has a subclinical cochlear hearing loss but no gross cochlear abnormalities. In situ RNA expression studies in postnatal mouse brain showed strong expression in the limbic system at the time interval of active synaptogenesis. The limbic system regulates learning, memory, and affective behavior, but limbic circuitry expression of other genes mutated in ID is unusual. By comparing the protein content of the
+/jc to
jc/jc mice brains with the use of proteomics, we detected 24 proteins with greater than 1.5-fold differences in expression, including two interacting proteins, dynamin and pacsin1. This study shows mutated
SOBP involvement in syndromic and nonsyndromic ID with psychosis in humans.</description><subject>Adult and adolescent clinical studies</subject><subject>Amino Acid Sequence</subject><subject>Animals</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Carrier Proteins - genetics</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gene expression</subject><subject>General aspects. Genetic counseling</subject><subject>Genetics</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Human genetics</subject><subject>Humans</subject><subject>Intellectual deficiency</subject><subject>Intellectual disabilities</subject><subject>Intellectual Disability - genetics</subject><subject>Karyotyping</subject><subject>Life Sciences</subject><subject>Limbic System - metabolism</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Metalloproteins - genetics</subject><subject>Mice</subject><subject>Molecular and cellular biology</subject><subject>Mutation</subject><subject>Nuclear Proteins - genetics</subject><subject>Pedigree</subject><subject>Proteins</subject><subject>Proteomics</subject><subject>Psychology. Psychoanalysis. Psychiatry</subject><subject>Psychopathology. Psychiatry</subject><subject>Psychotic Disorders - genetics</subject><subject>Ribonucleic acid</subject><subject>RNA</subject><subject>Rodents</subject><subject>Studies</subject><subject>Syndrome</subject><issn>0002-9297</issn><issn>1537-6605</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><recordid>eNqFklFv0zAUhSMEYmXwB3hAERJCPKRcO7GdSAhpG4NWKgyp8Gw5ttM4SpxiJ9X673HWUmAP8GTr-LvH19cnip4jmCNA9G0zF029mWO4E-YA5EE0QyRlCaVAHkYzAMBJgQt2Fj3xvgFAKIf0cXSGEaQEAZlFt-uby6_x0sefx0EMWsXGxuu9Va7vjIyFVfGX3vqTsLSDblsth1G08QfjRWlaM-zvwGCyMJu63cfXt1unvT-4DbWOL50Iu5XpyuCx3vtBd0-jR5VovX52XM-j7x-vv10tktXNp-XVxSqRNEuHBMscFFN5ziqclgXClAlSkTSrqpwyWShZIaJlAQIBLXEJVNFMh2dmSom0rNLz6P3BdzuWnVZS28GJlm-d6YTb814Y_veJNTXf9DsexpYXDAWDNweD-l7Z4mLFJw0wyhAr8t3Evj5e5vofo_YD74yXYWLC6n70vCAZKRALf_Q_ktGMZAjRiXx5j2z60dkwM54DIxhwlgcIHyDpeu-drk6dIuBTWHjDp7DwKSyTFsISil78OZpTya90BODVERBeirZywkrjf3NpRgETFrh3B06Hj9wZ7biXRluplXEhK1z15l99_ATzONyW</recordid><startdate>20101112</startdate><enddate>20101112</enddate><creator>Birk, Efrat</creator><creator>Har-Zahav, Adi</creator><creator>Manzini, Chiara M.</creator><creator>Pasmanik-Chor, Metsada</creator><creator>Kornreich, Liora</creator><creator>Walsh, Christopher A.</creator><creator>Noben-Trauth, Konrad</creator><creator>Albin, Adi</creator><creator>Simon, Amos J.</creator><creator>Colleaux, Laurence</creator><creator>Morad, Yair</creator><creator>Rainshtein, Limor</creator><creator>Tischfield, David J.</creator><creator>Wang, Peter</creator><creator>Magal, Nurit</creator><creator>Maya, Idit</creator><creator>Shoshani, Noa</creator><creator>Rechavi, Gideon</creator><creator>Gothelf, Doron</creator><creator>Maydan, Gal</creator><creator>Shohat, Mordechai</creator><creator>Basel-Vanagaite, Lina</creator><general>Elsevier Inc</general><general>Cell Press</general><general>Elsevier (Cell Press)</general><general>Elsevier</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7TK</scope><scope>7TM</scope><scope>7U7</scope><scope>8FD</scope><scope>C1K</scope><scope>FR3</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>1XC</scope><scope>5PM</scope><orcidid>https://orcid.org/0000-0002-0987-7648</orcidid></search><sort><creationdate>20101112</creationdate><title>SOBP Is Mutated in Syndromic and Nonsyndromic Intellectual Disability and Is Highly Expressed in the Brain Limbic System</title><author>Birk, Efrat ; Har-Zahav, Adi ; Manzini, Chiara M. ; Pasmanik-Chor, Metsada ; Kornreich, Liora ; Walsh, Christopher A. ; Noben-Trauth, Konrad ; Albin, Adi ; Simon, Amos J. ; Colleaux, Laurence ; Morad, Yair ; Rainshtein, Limor ; Tischfield, David J. ; Wang, Peter ; Magal, Nurit ; Maya, Idit ; Shoshani, Noa ; Rechavi, Gideon ; Gothelf, Doron ; Maydan, Gal ; Shohat, Mordechai ; Basel-Vanagaite, Lina</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c643t-2c80d7d887f23b91267a5f534ff867c9dcf15ec90a106b2b06d64e1804dda3bf3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Adult and adolescent clinical studies</topic><topic>Amino Acid Sequence</topic><topic>Animals</topic><topic>Base Sequence</topic><topic>Biological and medical sciences</topic><topic>Carrier Proteins - genetics</topic><topic>Female</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>Gene expression</topic><topic>General aspects. Genetic counseling</topic><topic>Genetics</topic><topic>Genetics of eukaryotes. Biological and molecular evolution</topic><topic>Human genetics</topic><topic>Humans</topic><topic>Intellectual deficiency</topic><topic>Intellectual disabilities</topic><topic>Intellectual Disability - genetics</topic><topic>Karyotyping</topic><topic>Life Sciences</topic><topic>Limbic System - metabolism</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Metalloproteins - genetics</topic><topic>Mice</topic><topic>Molecular and cellular biology</topic><topic>Mutation</topic><topic>Nuclear Proteins - genetics</topic><topic>Pedigree</topic><topic>Proteins</topic><topic>Proteomics</topic><topic>Psychology. Psychoanalysis. Psychiatry</topic><topic>Psychopathology. Psychiatry</topic><topic>Psychotic Disorders - genetics</topic><topic>Ribonucleic acid</topic><topic>RNA</topic><topic>Rodents</topic><topic>Studies</topic><topic>Syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Birk, Efrat</creatorcontrib><creatorcontrib>Har-Zahav, Adi</creatorcontrib><creatorcontrib>Manzini, Chiara M.</creatorcontrib><creatorcontrib>Pasmanik-Chor, Metsada</creatorcontrib><creatorcontrib>Kornreich, Liora</creatorcontrib><creatorcontrib>Walsh, Christopher A.</creatorcontrib><creatorcontrib>Noben-Trauth, Konrad</creatorcontrib><creatorcontrib>Albin, Adi</creatorcontrib><creatorcontrib>Simon, Amos J.</creatorcontrib><creatorcontrib>Colleaux, Laurence</creatorcontrib><creatorcontrib>Morad, Yair</creatorcontrib><creatorcontrib>Rainshtein, Limor</creatorcontrib><creatorcontrib>Tischfield, David J.</creatorcontrib><creatorcontrib>Wang, Peter</creatorcontrib><creatorcontrib>Magal, Nurit</creatorcontrib><creatorcontrib>Maya, Idit</creatorcontrib><creatorcontrib>Shoshani, Noa</creatorcontrib><creatorcontrib>Rechavi, Gideon</creatorcontrib><creatorcontrib>Gothelf, Doron</creatorcontrib><creatorcontrib>Maydan, Gal</creatorcontrib><creatorcontrib>Shohat, Mordechai</creatorcontrib><creatorcontrib>Basel-Vanagaite, Lina</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Toxicology Abstracts</collection><collection>Technology Research Database</collection><collection>Environmental Sciences and Pollution Management</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>Hyper Article en Ligne (HAL)</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Birk, Efrat</au><au>Har-Zahav, Adi</au><au>Manzini, Chiara M.</au><au>Pasmanik-Chor, Metsada</au><au>Kornreich, Liora</au><au>Walsh, Christopher A.</au><au>Noben-Trauth, Konrad</au><au>Albin, Adi</au><au>Simon, Amos J.</au><au>Colleaux, Laurence</au><au>Morad, Yair</au><au>Rainshtein, Limor</au><au>Tischfield, David J.</au><au>Wang, Peter</au><au>Magal, Nurit</au><au>Maya, Idit</au><au>Shoshani, Noa</au><au>Rechavi, Gideon</au><au>Gothelf, Doron</au><au>Maydan, Gal</au><au>Shohat, Mordechai</au><au>Basel-Vanagaite, Lina</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>SOBP Is Mutated in Syndromic and Nonsyndromic Intellectual Disability and Is Highly Expressed in the Brain Limbic System</atitle><jtitle>American journal of human genetics</jtitle><addtitle>Am J Hum Genet</addtitle><date>2010-11-12</date><risdate>2010</risdate><volume>87</volume><issue>5</issue><spage>694</spage><epage>700</epage><pages>694-700</pages><issn>0002-9297</issn><eissn>1537-6605</eissn><coden>AJHGAG</coden><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><notes>ObjectType-Article-2</notes><notes>ObjectType-Feature-1</notes><notes>PMCID: PMC2978971</notes><abstract>Intellectual disability (ID) affects 1%–3% of the general population. We recently reported on a family with autosomal-recessive mental retardation with anterior maxillary protrusion and strabismus (MRAMS) syndrome. One of the reported patients with ID did not have dysmorphic features but did have temporal lobe epilepsy and psychosis. We report on the identification of a truncating mutation in the
SOBP that is responsible for causing both syndromic and nonsyndromic ID in the same family. The protein encoded by the
SOBP, sine oculis binding protein ortholog, is a nuclear zinc finger protein. In mice, Sobp (also known as Jxc1) is critical for patterning of the organ of Corti; one of our patients has a subclinical cochlear hearing loss but no gross cochlear abnormalities. In situ RNA expression studies in postnatal mouse brain showed strong expression in the limbic system at the time interval of active synaptogenesis. The limbic system regulates learning, memory, and affective behavior, but limbic circuitry expression of other genes mutated in ID is unusual. By comparing the protein content of the
+/jc to
jc/jc mice brains with the use of proteomics, we detected 24 proteins with greater than 1.5-fold differences in expression, including two interacting proteins, dynamin and pacsin1. This study shows mutated
SOBP involvement in syndromic and nonsyndromic ID with psychosis in humans.</abstract><cop>Cambridge, MA</cop><pub>Elsevier Inc</pub><pmid>21035105</pmid><doi>10.1016/j.ajhg.2010.10.005</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0002-0987-7648</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0002-9297 |
| ispartof | American journal of human genetics, 2010-11, Vol.87 (5), p.694-700 |
| issn | 0002-9297 1537-6605 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_2978971 |
| source | BACON - Elsevier - GLOBAL_SCIENCEDIRECT-OPENACCESS; PubMed Central |
| subjects | Adult and adolescent clinical studies Amino Acid Sequence Animals Base Sequence Biological and medical sciences Carrier Proteins - genetics Female Fundamental and applied biological sciences. Psychology Gene expression General aspects. Genetic counseling Genetics Genetics of eukaryotes. Biological and molecular evolution Human genetics Humans Intellectual deficiency Intellectual disabilities Intellectual Disability - genetics Karyotyping Life Sciences Limbic System - metabolism Male Medical genetics Medical sciences Metalloproteins - genetics Mice Molecular and cellular biology Mutation Nuclear Proteins - genetics Pedigree Proteins Proteomics Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry Psychotic Disorders - genetics Ribonucleic acid RNA Rodents Studies Syndrome |
| title | SOBP Is Mutated in Syndromic and Nonsyndromic Intellectual Disability and Is Highly Expressed in the Brain Limbic System |
| url | http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-09-22T05%3A28%3A17IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=SOBP%20Is%20Mutated%20in%20Syndromic%20and%20Nonsyndromic%20Intellectual%20Disability%20and%20Is%20Highly%20Expressed%20in%20the%20Brain%20Limbic%20System&rft.jtitle=American%20journal%20of%20human%20genetics&rft.au=Birk,%20Efrat&rft.date=2010-11-12&rft.volume=87&rft.issue=5&rft.spage=694&rft.epage=700&rft.pages=694-700&rft.issn=0002-9297&rft.eissn=1537-6605&rft.coden=AJHGAG&rft_id=info:doi/10.1016/j.ajhg.2010.10.005&rft_dat=%3Cproquest_pubme%3E764541165%3C/proquest_pubme%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c643t-2c80d7d887f23b91267a5f534ff867c9dcf15ec90a106b2b06d64e1804dda3bf3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=807520248&rft_id=info:pmid/21035105&rfr_iscdi=true |