Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3-Reference-Cited by-同舟云学术

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

Published:2010-08-11 Issue:1 Volume:19 Page:115-117
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Kahrizi Kimia,Hu Cougar Hao,Garshasbi Masoud,Abedini Seyedeh Sedigheh,Ghadami Shirin,Kariminejad Roxana,Ullmann Reinhard,Chen Wei,Ropers H-Hilger,Kuss Andreas W,Najmabadi Hossein,Tzschach Andreas

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2010132.pdf

Reference6 articles.

1. Kahrizi K, Najmabadi H, Kariminejad R et al: An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4. Eur J Hum Genet 2009; 17: 125–128.

2. Hu H, Wrogemann K, Kalscheuer V et al: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing. HUGO J 2009; 1: 41–49.

3. Cantagrel V, Lefeber DJ, Ng BG et al: The SRD5A3 gene is required for the conversion of polyprenol to dolichol, essential for N-linked protein glycosylation. Cell 2010; 142: 203–217.

4. Morava E, Wosik H, Karteszi J et al: Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps. J Inherit Metab Dis 2008; 31: 450–456.

5. Al-Gazali L, Hertecant J, Algawi K et al: A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family. Am J Med Genet A 2008; 146: 813–819.

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