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          Document History for Document ID 533103

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Document Version Version Comment Date Status
533103.0 [No comment] 22.02.2011 11:45 Released

ID: 533103.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
Authors:Kahrizi, Kimia; Hu, Cougar Hao; Garshasbi, Masoud; Abedini, Seyedeh Sedigheh; Ghadami, Shirin; Kariminejad, Roxana; Ullmann, Reinhard; Chen, Wei; Ropers, Hans-Hilger; Kuss, Andreas W.; Najmabadi, Hossein; Tzschach, Andreas
Language:English
Date of Publication (YYYY-MM-DD):2010-08-11
Title of Journal:European Journal of Human Genetics
Journal Abbrev.:Eur. J. Hum. Genet.
Volume:19
Start Page:115
End Page:117
Copyright:© 2010 European Society of Human Genetics
Review Status:not specified
Audience:Experts Only
Abstract / Description:As part of a large-scale, systematic effort to unravel the molecular causes of autosomal recessive mental retardation, we have previously described a novel syndrome consisting of mental retardation, coloboma, cataract and kyphosis (Kahrizi syndrome, OMIM 612713) and mapped the underlying gene to a 10.4-Mb interval near the centromere on chromosome 4. By combining array-based exon enrichment and next generation sequencing, we have now identified a homozygous frameshift mutation (c.203dupC; p.Phe69LeufsX2) in the gene for steroid 5α-reductase type 3 (SRD5A3) as the disease-causing change in this interval. Recent evidence indicates that this enzyme is required for the conversion of polyprenol to dolichol, a step that is essential for N-linked protein glycosylation. Independently, another group has recently observed SRD5A3 mutations in several families with a type 1 congenital disorder of glycosylation (CDG type Ix, OMIM 212067), mental retardation, cerebellar ataxia and eye disorders. Our results show that Kahrizi syndrome and this CDG Ix subtype are allelic disorders, and they illustrate the potential of next-generation sequencing strategies for the elucidation of single gene defects.
Free Keywords:SRD5A3;
next generation sequencing;
congenital disorder of glycosylation;
mental retardation;
autosomal recessive;
consanguinity
Comment of the Author/Creator:Correspondence: Dr A Tzschach, Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestr. 73, 14195 Berlin, Germany. Tel: +49 30 8413 1416; FAX: +49 30 8413 1383; E-mail: tzschach@molgen.mpg.de
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Identifiers:URL:http://www.nature.com/ejhg/journal/v19/n1/pdf/ejhg...
ISSN:1018-4813
DOI:10.1038/ejhg.2010.132
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