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  Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

Kahrizi, K., Hu, C. H., Garshasbi, M., Abedini, S. S., Ghadami, S., Kariminejad, R., et al. (2011). Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. Eur J Hum Genet, 19(1), 115-7. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=20700148 http://www.nature.com/ejhg/journal/v19/n1/pdf/ejhg2010132a.pdf.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7981-6 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7982-4
Genre: Journal Article

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Kahrizi, K., Author
Hu, C. H., Author
Garshasbi, M.1, Author              
Abedini, S. S., Author
Ghadami, S., Author
Kariminejad, R., Author
Ullmann, R.2, Author              
Chen, W.1, Author              
Ropers, H. H.1, Author              
Kuss, A. W.3, Author              
Najmabadi, H., Author
Tzschach, A.1, Author              
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
3Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              

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Free keywords: 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/*genetics; Cataract/congenital/genetics; Cerebellar Ataxia/genetics; Chromosomes, Human, Pair 4/genetics; Coloboma/genetics; DNA Mutational Analysis/methods; Exons/genetics; Eye Diseases/genetics; Frameshift Mutation/*genetics; Genes, Recessive/*genetics; Glycosylation; *Homozygote; Humans; Intellectual Disability/*genetics; Kyphosis/genetics; Membrane Proteins/*genetics; Sequence Analysis, DNA/*methods; Syndrome
 Abstract: 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 5alpha-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.

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 Dates: 2011
 Publication Status: Published in print
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Title: Eur J Hum Genet
Source Genre: Journal
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Pages: - Volume / Issue: 19 (1) Sequence Number: - Start / End Page: 115 - 7 Identifier: ISSN: 1476-5438 (Electronic) 1018-4813 (Linking)