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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. (2010). Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. European Journal of Human Genetics, 19, 115-117. doi:10.1038/ejhg.2010.132.

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Genre: Zeitschriftenartikel
Alternativer Titel : Eur. J. Hum. Genet.

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 Urheber:
Kahrizi, Kimia, Autor
Hu, Cougar Hao1, Autor
Garshasbi, Masoud2, Autor           
Abedini, Seyedeh Sedigheh, Autor
Ghadami, Shirin, Autor
Kariminejad, Roxana, Autor
Ullmann, Reinhard3, Autor           
Chen, Wei2, Autor           
Ropers, Hans-Hilger2, Autor           
Kuss, Andreas W.4, Autor           
Najmabadi, Hossein, Autor
Tzschach, Andreas2, Autor           
Affiliations:
1Max Planck Society, ou_persistent13              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
4Familial 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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Schlagwörter: SRD5A3; next generation sequencing; congenital disorder of glycosylation; mental retardation; autosomal recessive; consanguinity
 Zusammenfassung: 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.

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Sprache(n): eng - English
 Datum: 2010-08-11
 Publikationsstatus: Erschienen
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Titel: European Journal of Human Genetics
  Alternativer Titel : Eur. J. Hum. Genet.
Genre der Quelle: Zeitschrift
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Seiten: - Band / Heft: 19 Artikelnummer: - Start- / Endseite: 115 - 117 Identifikator: ISSN: 1018-4813