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Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay
Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (OMIM #109400) is a well‐described rare autosomal dominant condition due to haploinsufficiency of PTCH1. With the availability of comparative genomic hybridization arrays, increasing numbers of individuals with microdeletions involving...
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| Published in: | American journal of medical genetics. Part A 2012-02, Vol.158A (2), p.391-399 |
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| container_title | American journal of medical genetics. Part A |
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| creator | Muller, Eric A. Aradhya, Swaroop Atkin, Joan F. Carmany, Erin P. Elliott, Alison M. Chudley, Albert E. Clark, Robin D. Everman, David B. Garner, Shannon Hall, Bryan D. Herman, Gail E. Kivuva, Emma Ramanathan, Subhadra Stevenson, David A. Stockton, David W. Hudgins, Louanne |
| description | Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (OMIM #109400) is a well‐described rare autosomal dominant condition due to haploinsufficiency of PTCH1. With the availability of comparative genomic hybridization arrays, increasing numbers of individuals with microdeletions involving this locus are being identified. We present 10 previously unreported individuals with 9q22.3 deletions that include PTCH1. While 7 of the 10 patients (7 females, 3 males) did not meet strict clinical criteria for BCNS at the time of molecular diagnosis, almost all of the patients were too young to exhibit many of the diagnostic features. A number of the patients exhibited metopic craniosynostosis, severe obstructive hydrocephalus, and macrosomia, which are not typically observed in BCNS. All individuals older than a few months of age also had developmental delays and/or intellectual disability. Only facial features typical of BCNS, except in those with prominent midforeheads secondary to metopic craniosynostosis, were shared among the 10 patients. The deletions in these individuals ranged from 352 kb to 20.5 Mb in size, the largest spanning 9q21.33 through 9q31.2. There was significant overlap of the deleted segments among most of the patients. The smallest common regions shared among the deletions were identified in order to localize putative candidate genes that are potentially responsible for each of the non‐BCNS features. These were a 929 kb region for metopic craniosynostosis, a 1.08 Mb region for obstructive hydrocephalus, and a 1.84 Mb region for macrosomia. Additional studies are needed to further characterize the candidate genes within these regions. © 2011 Wiley Periodicals, Inc. |
| doi_str_mv | 10.1002/ajmg.a.34216 |
| format | article |
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With the availability of comparative genomic hybridization arrays, increasing numbers of individuals with microdeletions involving this locus are being identified. We present 10 previously unreported individuals with 9q22.3 deletions that include PTCH1. While 7 of the 10 patients (7 females, 3 males) did not meet strict clinical criteria for BCNS at the time of molecular diagnosis, almost all of the patients were too young to exhibit many of the diagnostic features. A number of the patients exhibited metopic craniosynostosis, severe obstructive hydrocephalus, and macrosomia, which are not typically observed in BCNS. All individuals older than a few months of age also had developmental delays and/or intellectual disability. Only facial features typical of BCNS, except in those with prominent midforeheads secondary to metopic craniosynostosis, were shared among the 10 patients. The deletions in these individuals ranged from 352 kb to 20.5 Mb in size, the largest spanning 9q21.33 through 9q31.2. There was significant overlap of the deleted segments among most of the patients. The smallest common regions shared among the deletions were identified in order to localize putative candidate genes that are potentially responsible for each of the non‐BCNS features. These were a 929 kb region for metopic craniosynostosis, a 1.08 Mb region for obstructive hydrocephalus, and a 1.84 Mb region for macrosomia. Additional studies are needed to further characterize the candidate genes within these regions. © 2011 Wiley Periodicals, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.34216</identifier><identifier>PMID: 22190277</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>9q22 ; basal cell carcinoma syndrome ; basal cell nevus syndrome ; Basal Cell Nevus Syndrome - diagnosis ; Basal Cell Nevus Syndrome - genetics ; Basal Cell Nevus Syndrome - pathology ; Carcinoma, Basal Cell - diagnosis ; Carcinoma, Basal Cell - genetics ; Carcinoma, Basal Cell - pathology ; Child ; Child, Preschool ; chromosomal deletion ; Chromosome Deletion ; Chromosomes, Human, Pair 9 - genetics ; Comparative Genomic Hybridization ; Craniosynostoses - diagnosis ; Craniosynostoses - genetics ; Developmental Disabilities - diagnosis ; Developmental Disabilities - genetics ; Female ; Fetal Macrosomia - genetics ; Genetic Association Studies ; Gorlin syndrome ; Haploinsufficiency - genetics ; Humans ; Hydrocephalus - diagnosis ; Hydrocephalus - genetics ; Infant ; Infant, Newborn ; Intellectual Disability - diagnosis ; Intellectual Disability - pathology ; Male ; metopic craniosynostosis ; Patched Receptors ; Patched-1 Receptor ; Pathology, Molecular ; PTCH1 ; Receptors, Cell Surface - genetics</subject><ispartof>American journal of medical genetics. 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Part A</title><addtitle>Am. J. Med. Genet</addtitle><description>Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (OMIM #109400) is a well‐described rare autosomal dominant condition due to haploinsufficiency of PTCH1. With the availability of comparative genomic hybridization arrays, increasing numbers of individuals with microdeletions involving this locus are being identified. We present 10 previously unreported individuals with 9q22.3 deletions that include PTCH1. While 7 of the 10 patients (7 females, 3 males) did not meet strict clinical criteria for BCNS at the time of molecular diagnosis, almost all of the patients were too young to exhibit many of the diagnostic features. A number of the patients exhibited metopic craniosynostosis, severe obstructive hydrocephalus, and macrosomia, which are not typically observed in BCNS. All individuals older than a few months of age also had developmental delays and/or intellectual disability. Only facial features typical of BCNS, except in those with prominent midforeheads secondary to metopic craniosynostosis, were shared among the 10 patients. The deletions in these individuals ranged from 352 kb to 20.5 Mb in size, the largest spanning 9q21.33 through 9q31.2. There was significant overlap of the deleted segments among most of the patients. The smallest common regions shared among the deletions were identified in order to localize putative candidate genes that are potentially responsible for each of the non‐BCNS features. These were a 929 kb region for metopic craniosynostosis, a 1.08 Mb region for obstructive hydrocephalus, and a 1.84 Mb region for macrosomia. Additional studies are needed to further characterize the candidate genes within these regions. © 2011 Wiley Periodicals, Inc.</description><subject>9q22</subject><subject>basal cell carcinoma syndrome</subject><subject>basal cell nevus syndrome</subject><subject>Basal Cell Nevus Syndrome - diagnosis</subject><subject>Basal Cell Nevus Syndrome - genetics</subject><subject>Basal Cell Nevus Syndrome - pathology</subject><subject>Carcinoma, Basal Cell - diagnosis</subject><subject>Carcinoma, Basal Cell - genetics</subject><subject>Carcinoma, Basal Cell - pathology</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>chromosomal deletion</subject><subject>Chromosome Deletion</subject><subject>Chromosomes, Human, Pair 9 - genetics</subject><subject>Comparative Genomic Hybridization</subject><subject>Craniosynostoses - diagnosis</subject><subject>Craniosynostoses - genetics</subject><subject>Developmental Disabilities - diagnosis</subject><subject>Developmental Disabilities - genetics</subject><subject>Female</subject><subject>Fetal Macrosomia - genetics</subject><subject>Genetic Association Studies</subject><subject>Gorlin syndrome</subject><subject>Haploinsufficiency - genetics</subject><subject>Humans</subject><subject>Hydrocephalus - diagnosis</subject><subject>Hydrocephalus - genetics</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Intellectual Disability - diagnosis</subject><subject>Intellectual Disability - pathology</subject><subject>Male</subject><subject>metopic craniosynostosis</subject><subject>Patched Receptors</subject><subject>Patched-1 Receptor</subject><subject>Pathology, Molecular</subject><subject>PTCH1</subject><subject>Receptors, Cell Surface - genetics</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><recordid>eNp90U1v1DAQBuAIgWgp3DijSBzoYbP4I_Ykx6qiW2gLQgL1aHntCfXixGmcFPLv8bLtHnroyR77mVeyJ8veUrKkhLCPetP-WuolLxmVz7JDKgQryorz5_s9EwfZqxg3hHAiQL7MDhijNWEAh1m8cmYIFj2OLnR5fcvYkudx7uwQWsxdZ_xkMeYtjqF3JjeD7lxI9yGOIbq4yG_mRA32N9pPqWx1youhdXqR687mFu_Qh77FbtQ-VV7Pr7MXjfYR39yvR9nPs08_Ts-Ly2-rz6cnl4URHGQhhTUSoIFKWjSNBlMSU1UlSrCNXddgUVdUVrjWDbJ01DCQFDm3ghhskB9lH3a5_RBuJ4yjal006L3uMExR1RQEVKIWSR4_KSmAlEBqRhJ9_4huwjR06R1JSUmYLEue1GKntp8RB2xUP7hWD7OiRG3HprZjU1r9H1vi7-5Dp3WLdo8f5pQA34E_zuP8ZJg6-XK1eogtdl0ujvh336WH30oCB6Guv67U2TlcX3yvQAn-D_2RtQw</recordid><startdate>201202</startdate><enddate>201202</enddate><creator>Muller, Eric A.</creator><creator>Aradhya, Swaroop</creator><creator>Atkin, Joan F.</creator><creator>Carmany, Erin P.</creator><creator>Elliott, Alison M.</creator><creator>Chudley, Albert E.</creator><creator>Clark, Robin D.</creator><creator>Everman, David B.</creator><creator>Garner, Shannon</creator><creator>Hall, Bryan D.</creator><creator>Herman, Gail E.</creator><creator>Kivuva, Emma</creator><creator>Ramanathan, Subhadra</creator><creator>Stevenson, David A.</creator><creator>Stockton, David W.</creator><creator>Hudgins, Louanne</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</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>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201202</creationdate><title>Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay</title><author>Muller, Eric A. ; Aradhya, Swaroop ; Atkin, Joan F. ; Carmany, Erin P. ; Elliott, Alison M. ; Chudley, Albert E. ; Clark, Robin D. ; Everman, David B. ; Garner, Shannon ; Hall, Bryan D. ; Herman, Gail E. ; Kivuva, Emma ; Ramanathan, Subhadra ; Stevenson, David A. ; Stockton, David W. ; Hudgins, Louanne</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5376-65dc677f786decfa7c40c884e67dfdb97dea8168ebafe2dfdf2761e33d50cefe3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>9q22</topic><topic>basal cell carcinoma syndrome</topic><topic>basal cell nevus syndrome</topic><topic>Basal Cell Nevus Syndrome - diagnosis</topic><topic>Basal Cell Nevus Syndrome - genetics</topic><topic>Basal Cell Nevus Syndrome - pathology</topic><topic>Carcinoma, Basal Cell - diagnosis</topic><topic>Carcinoma, Basal Cell - genetics</topic><topic>Carcinoma, Basal Cell - pathology</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>chromosomal deletion</topic><topic>Chromosome Deletion</topic><topic>Chromosomes, Human, Pair 9 - genetics</topic><topic>Comparative Genomic Hybridization</topic><topic>Craniosynostoses - diagnosis</topic><topic>Craniosynostoses - genetics</topic><topic>Developmental Disabilities - diagnosis</topic><topic>Developmental Disabilities - genetics</topic><topic>Female</topic><topic>Fetal Macrosomia - genetics</topic><topic>Genetic Association Studies</topic><topic>Gorlin syndrome</topic><topic>Haploinsufficiency - genetics</topic><topic>Humans</topic><topic>Hydrocephalus - diagnosis</topic><topic>Hydrocephalus - genetics</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Intellectual Disability - diagnosis</topic><topic>Intellectual Disability - pathology</topic><topic>Male</topic><topic>metopic craniosynostosis</topic><topic>Patched Receptors</topic><topic>Patched-1 Receptor</topic><topic>Pathology, Molecular</topic><topic>PTCH1</topic><topic>Receptors, Cell Surface - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Muller, Eric A.</creatorcontrib><creatorcontrib>Aradhya, Swaroop</creatorcontrib><creatorcontrib>Atkin, Joan F.</creatorcontrib><creatorcontrib>Carmany, Erin P.</creatorcontrib><creatorcontrib>Elliott, Alison M.</creatorcontrib><creatorcontrib>Chudley, Albert E.</creatorcontrib><creatorcontrib>Clark, Robin D.</creatorcontrib><creatorcontrib>Everman, David B.</creatorcontrib><creatorcontrib>Garner, Shannon</creatorcontrib><creatorcontrib>Hall, Bryan D.</creatorcontrib><creatorcontrib>Herman, Gail E.</creatorcontrib><creatorcontrib>Kivuva, Emma</creatorcontrib><creatorcontrib>Ramanathan, Subhadra</creatorcontrib><creatorcontrib>Stevenson, David A.</creatorcontrib><creatorcontrib>Stockton, David W.</creatorcontrib><creatorcontrib>Hudgins, Louanne</creatorcontrib><collection>Istex</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>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Muller, Eric A.</au><au>Aradhya, Swaroop</au><au>Atkin, Joan F.</au><au>Carmany, Erin P.</au><au>Elliott, Alison M.</au><au>Chudley, Albert E.</au><au>Clark, Robin D.</au><au>Everman, David B.</au><au>Garner, Shannon</au><au>Hall, Bryan D.</au><au>Herman, Gail E.</au><au>Kivuva, Emma</au><au>Ramanathan, Subhadra</au><au>Stevenson, David A.</au><au>Stockton, David W.</au><au>Hudgins, Louanne</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2012-02</date><risdate>2012</risdate><volume>158A</volume><issue>2</issue><spage>391</spage><epage>399</epage><pages>391-399</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><notes>istex:D21769FD5A4F4168C5861D6CA26A868A765B1400</notes><notes>How to Cite this Article: Muller EA, Aradhya S, Atkin JF, Carmany EP, Elliott AM, Chudley AE, Clark RD, Everman DB, Garner S, Hall BD, Herman GE, Kivuva E, Ramanathan S, Stevenson DA, Stockton DW, Hudgins L. 2012. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. Am J Med Genet Part A 158A:391-399.</notes><notes>ArticleID:AJMG34216</notes><notes>ark:/67375/WNG-FH7WKQ87-5</notes><notes>How to Cite this Article: Muller EA, Aradhya S, Atkin JF, Carmany EP, Elliott AM, Chudley AE, Clark RD, Everman DB, Garner S, Hall BD, Herman GE, Kivuva E, Ramanathan S, Stevenson DA, Stockton DW, Hudgins L. 2012. Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay. Am J Med Genet Part A 158A:391–399.</notes><notes>ObjectType-Article-1</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-2</notes><notes>content type line 23</notes><abstract>Basal cell nevus syndrome (BCNS), also known as Gorlin syndrome (OMIM #109400) is a well‐described rare autosomal dominant condition due to haploinsufficiency of PTCH1. With the availability of comparative genomic hybridization arrays, increasing numbers of individuals with microdeletions involving this locus are being identified. We present 10 previously unreported individuals with 9q22.3 deletions that include PTCH1. While 7 of the 10 patients (7 females, 3 males) did not meet strict clinical criteria for BCNS at the time of molecular diagnosis, almost all of the patients were too young to exhibit many of the diagnostic features. A number of the patients exhibited metopic craniosynostosis, severe obstructive hydrocephalus, and macrosomia, which are not typically observed in BCNS. All individuals older than a few months of age also had developmental delays and/or intellectual disability. Only facial features typical of BCNS, except in those with prominent midforeheads secondary to metopic craniosynostosis, were shared among the 10 patients. The deletions in these individuals ranged from 352 kb to 20.5 Mb in size, the largest spanning 9q21.33 through 9q31.2. There was significant overlap of the deleted segments among most of the patients. The smallest common regions shared among the deletions were identified in order to localize putative candidate genes that are potentially responsible for each of the non‐BCNS features. These were a 929 kb region for metopic craniosynostosis, a 1.08 Mb region for obstructive hydrocephalus, and a 1.84 Mb region for macrosomia. Additional studies are needed to further characterize the candidate genes within these regions. © 2011 Wiley Periodicals, Inc.</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>22190277</pmid><doi>10.1002/ajmg.a.34216</doi><tpages>9</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | 9q22 basal cell carcinoma syndrome basal cell nevus syndrome Basal Cell Nevus Syndrome - diagnosis Basal Cell Nevus Syndrome - genetics Basal Cell Nevus Syndrome - pathology Carcinoma, Basal Cell - diagnosis Carcinoma, Basal Cell - genetics Carcinoma, Basal Cell - pathology Child Child, Preschool chromosomal deletion Chromosome Deletion Chromosomes, Human, Pair 9 - genetics Comparative Genomic Hybridization Craniosynostoses - diagnosis Craniosynostoses - genetics Developmental Disabilities - diagnosis Developmental Disabilities - genetics Female Fetal Macrosomia - genetics Genetic Association Studies Gorlin syndrome Haploinsufficiency - genetics Humans Hydrocephalus - diagnosis Hydrocephalus - genetics Infant Infant, Newborn Intellectual Disability - diagnosis Intellectual Disability - pathology Male metopic craniosynostosis Patched Receptors Patched-1 Receptor Pathology, Molecular PTCH1 Receptors, Cell Surface - genetics |
| title | Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay |
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