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A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family
Mutations in the PIGN gene involved in the glycosylphoshatidylinositol (GPI) anchor biosynthesis pathway cause Multiple Congenital Anomalies–Hypotonia–Seizures syndrome 1 (MCAHS1). The syndrome manifests developmental delay, hypotonia, and epilepsy, combined with multiple congenital anomalies. We re...
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| Published in: | American journal of medical genetics. Part A 2016-01, Vol.170A (1), p.176-182 |
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| cites | cdi_FETCH-LOGICAL-c6645-e5d69a8aac9e33e630c21fd4cc9c38b9127ea7259bab8d541844af652ed16cb73 |
| container_end_page | 182 |
| container_issue | 1 |
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| container_title | American journal of medical genetics. Part A |
| container_volume | 170A |
| creator | Khayat, Morad Tilghman, Joseph Mark Chervinsky, Ilana Zalman, Lucia Chakravarti, Aravinda Shalev, Stavit A. |
| description | Mutations in the PIGN gene involved in the glycosylphoshatidylinositol (GPI) anchor biosynthesis pathway cause Multiple Congenital Anomalies–Hypotonia–Seizures syndrome 1 (MCAHS1). The syndrome manifests developmental delay, hypotonia, and epilepsy, combined with multiple congenital anomalies. We report on the identification of a homozygous novel c.755A>T (p.D252V) deleterious mutation in a patient with Israeli–Arab origin with MCAHS1. The mutated PIGN caused a significant decrease of the overall GPI‐anchored proteins and CD24 expression. Our results, strongly support previously published data, that partial depletion of GPI‐anchored proteins is sufficient to cause severe phenotypic expression. © 2015 Wiley Periodicals, Inc. |
| doi_str_mv | 10.1002/ajmg.a.37375 |
| format | article |
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The syndrome manifests developmental delay, hypotonia, and epilepsy, combined with multiple congenital anomalies. We report on the identification of a homozygous novel c.755A>T (p.D252V) deleterious mutation in a patient with Israeli–Arab origin with MCAHS1. The mutated PIGN caused a significant decrease of the overall GPI‐anchored proteins and CD24 expression. Our results, strongly support previously published data, that partial depletion of GPI‐anchored proteins is sufficient to cause severe phenotypic expression. © 2015 Wiley Periodicals, Inc.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.37375</identifier><identifier>PMID: 26364997</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>Abnormalities, Multiple - genetics ; Arabs - genetics ; Base Sequence ; CD24 Antigen - biosynthesis ; Child ; Developmental Disabilities - genetics ; Exome - genetics ; Exome sequencing ; Female ; glycosylphoshatidylinositol (GPI) ; Glycosylphosphatidylinositols - biosynthesis ; Glycosylphosphatidylinositols - deficiency ; Glycosylphosphatidylinositols - genetics ; Humans ; Israel ; MCAHS1 ; Muscle Hypotonia - genetics ; Mutation - genetics ; Pedigree ; Phosphotransferases - genetics ; PIGN ; Seizures - genetics ; Sequence Analysis, DNA</subject><ispartof>American journal of medical genetics. 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Part A</title><addtitle>Am. J. Med. Genet</addtitle><description>Mutations in the PIGN gene involved in the glycosylphoshatidylinositol (GPI) anchor biosynthesis pathway cause Multiple Congenital Anomalies–Hypotonia–Seizures syndrome 1 (MCAHS1). The syndrome manifests developmental delay, hypotonia, and epilepsy, combined with multiple congenital anomalies. We report on the identification of a homozygous novel c.755A>T (p.D252V) deleterious mutation in a patient with Israeli–Arab origin with MCAHS1. The mutated PIGN caused a significant decrease of the overall GPI‐anchored proteins and CD24 expression. Our results, strongly support previously published data, that partial depletion of GPI‐anchored proteins is sufficient to cause severe phenotypic expression. © 2015 Wiley Periodicals, Inc.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Arabs - genetics</subject><subject>Base Sequence</subject><subject>CD24 Antigen - biosynthesis</subject><subject>Child</subject><subject>Developmental Disabilities - genetics</subject><subject>Exome - genetics</subject><subject>Exome sequencing</subject><subject>Female</subject><subject>glycosylphoshatidylinositol (GPI)</subject><subject>Glycosylphosphatidylinositols - biosynthesis</subject><subject>Glycosylphosphatidylinositols - deficiency</subject><subject>Glycosylphosphatidylinositols - genetics</subject><subject>Humans</subject><subject>Israel</subject><subject>MCAHS1</subject><subject>Muscle Hypotonia - genetics</subject><subject>Mutation - genetics</subject><subject>Pedigree</subject><subject>Phosphotransferases - genetics</subject><subject>PIGN</subject><subject>Seizures - genetics</subject><subject>Sequence Analysis, DNA</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><recordid>eNqNks9v0zAUxyMEYj_gxhlZ4jIkUuw4dpILUlSxrmUbSIB2tF4cp3Nx7GIng3Lgb8ddtwo4IE629T7fr957_ibJM4InBOPsNaz65QQmtKAFe5AcEsayNC8pfbi_Z-wgOQphhTHFrOCPk4OMU55XVXGY_KzRh_nsEvXjAIN2FnkV1s4G3RiFOudjwQx6HR_S2aWyegCDwLoejFYhvd6s3eCshjQo_WOMYhQ2tvWuV4igk4tpffaRvETaRg2aBw_K6LT20KAOem02T5JHHZignt6dx8nn07efpmfp-fvZfFqfp5LznKWKtbyCEkBWilLFKZYZ6dpcykrSsqlIVigoMlY10JQty0mZ59BxlqmWcNkU9Dh5s_Ndj02vWqns4MGItdc9-I1woMWfFauvxdLdCMYpKxmNBid3Bt59HVUYRK-DVMaAVW4MghTFtlNC2H-gHJcVZRWJ6Iu_0JUbvY2biBQrMC1IhSP1akdJ70Lwqtv3TbDYZkBsMyBA3GYg4s9_n3UP3396BPId8E0btfmnmagXF7P63jfdyXQY1Pe9DPwXwW_Zq8uZyBfv8lN-tRBT-gsGe84H</recordid><startdate>201601</startdate><enddate>201601</enddate><creator>Khayat, Morad</creator><creator>Tilghman, Joseph Mark</creator><creator>Chervinsky, Ilana</creator><creator>Zalman, Lucia</creator><creator>Chakravarti, Aravinda</creator><creator>Shalev, Stavit A.</creator><general>Blackwell Publishing Ltd</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><scope>5PM</scope></search><sort><creationdate>201601</creationdate><title>A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family</title><author>Khayat, Morad ; Tilghman, Joseph Mark ; Chervinsky, Ilana ; Zalman, Lucia ; Chakravarti, Aravinda ; Shalev, Stavit A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c6645-e5d69a8aac9e33e630c21fd4cc9c38b9127ea7259bab8d541844af652ed16cb73</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Abnormalities, Multiple - genetics</topic><topic>Arabs - genetics</topic><topic>Base Sequence</topic><topic>CD24 Antigen - biosynthesis</topic><topic>Child</topic><topic>Developmental Disabilities - genetics</topic><topic>Exome - genetics</topic><topic>Exome sequencing</topic><topic>Female</topic><topic>glycosylphoshatidylinositol (GPI)</topic><topic>Glycosylphosphatidylinositols - biosynthesis</topic><topic>Glycosylphosphatidylinositols - deficiency</topic><topic>Glycosylphosphatidylinositols - genetics</topic><topic>Humans</topic><topic>Israel</topic><topic>MCAHS1</topic><topic>Muscle Hypotonia - genetics</topic><topic>Mutation - genetics</topic><topic>Pedigree</topic><topic>Phosphotransferases - genetics</topic><topic>PIGN</topic><topic>Seizures - genetics</topic><topic>Sequence Analysis, DNA</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Khayat, Morad</creatorcontrib><creatorcontrib>Tilghman, Joseph Mark</creatorcontrib><creatorcontrib>Chervinsky, Ilana</creatorcontrib><creatorcontrib>Zalman, Lucia</creatorcontrib><creatorcontrib>Chakravarti, Aravinda</creatorcontrib><creatorcontrib>Shalev, Stavit A.</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><collection>PubMed Central (Full Participant titles)</collection><jtitle>American journal of medical genetics. Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Khayat, Morad</au><au>Tilghman, Joseph Mark</au><au>Chervinsky, Ilana</au><au>Zalman, Lucia</au><au>Chakravarti, Aravinda</au><au>Shalev, Stavit A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am. J. Med. Genet</addtitle><date>2016-01</date><risdate>2016</risdate><volume>170A</volume><issue>1</issue><spage>176</spage><epage>182</epage><pages>176-182</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><notes>ark:/67375/WNG-4JK4F6WJ-C</notes><notes>Technion, Israel Institute of Technology</notes><notes>Johns Hopkins University</notes><notes>ArticleID:AJMGA37375</notes><notes>istex:99B0D43A098BE6482A50A72F97CE0537BCA7F3C6</notes><notes>ObjectType-Case Study-2</notes><notes>SourceType-Scholarly Journals-1</notes><notes>ObjectType-Feature-4</notes><notes>content type line 23</notes><notes>ObjectType-Report-1</notes><notes>ObjectType-Article-3</notes><notes>ObjectType-Article-1</notes><notes>ObjectType-Feature-2</notes><abstract>Mutations in the PIGN gene involved in the glycosylphoshatidylinositol (GPI) anchor biosynthesis pathway cause Multiple Congenital Anomalies–Hypotonia–Seizures syndrome 1 (MCAHS1). The syndrome manifests developmental delay, hypotonia, and epilepsy, combined with multiple congenital anomalies. We report on the identification of a homozygous novel c.755A>T (p.D252V) deleterious mutation in a patient with Israeli–Arab origin with MCAHS1. The mutated PIGN caused a significant decrease of the overall GPI‐anchored proteins and CD24 expression. Our results, strongly support previously published data, that partial depletion of GPI‐anchored proteins is sufficient to cause severe phenotypic expression. © 2015 Wiley Periodicals, Inc.</abstract><cop>United States</cop><pub>Blackwell Publishing Ltd</pub><pmid>26364997</pmid><doi>10.1002/ajmg.a.37375</doi><tpages>7</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | American journal of medical genetics. Part A, 2016-01, Vol.170A (1), p.176-182 |
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| language | eng |
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| source | Wiley-Blackwell Journals |
| subjects | Abnormalities, Multiple - genetics Arabs - genetics Base Sequence CD24 Antigen - biosynthesis Child Developmental Disabilities - genetics Exome - genetics Exome sequencing Female glycosylphoshatidylinositol (GPI) Glycosylphosphatidylinositols - biosynthesis Glycosylphosphatidylinositols - deficiency Glycosylphosphatidylinositols - genetics Humans Israel MCAHS1 Muscle Hypotonia - genetics Mutation - genetics Pedigree Phosphotransferases - genetics PIGN Seizures - genetics Sequence Analysis, DNA |
| title | A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family |
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