A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome)

Yasser Al-Sarraj; Tawfeg Ben-Omran; Mohammed Tolefat; Yosra Bejaoui; Hatem El-Shanti; Marios Kambouris

doi:10.1177/2326409814550528

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A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome)

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A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome)

Yasser Al-Sarraj, Tawfeg Ben-Omran, Mohammed Tolefat, Yosra Bejaoui, Hatem El-Shanti and Marios Kambouris

Journal of inborn errors of metabolism and screening, Vol.2

01/2014

DOI: 10.1177/2326409814550528

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Abstract

Abstract A consanguineous Qatari family having an autosomal recessive disorder characterized by severe mental retardation, cerebellar vermis hypoplasia, retinal degeneration, optic nerve atrophy, ataxic gait, and seizures was studied for identification of the offending gene and mutation. Homozygosity mapping identified an 11.4 Mb critical interval at 4q12 to q13.2 that would contain the gene responsible for the disorder. Ten positional candidate genes were screened for pathogenic mutations, but none were identified. Next-generation exome sequencing in one affected individual identified a novel SRD5A3 missense mutation c.T744G/p.F248L, which was subsequently confirmed by Sanger sequencing, suggesting a congenital disorder of glycosylation type IQ defect. Isoelectric focusing of serum transferrin showed a type I pattern indicative of an .-glycan assembly defect. This is a novel pathogenic mutation and the first SRD5A3 missense mutation as all others are protein-truncating mutations.

GENETICS & HEREDITY

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Title: Subtitle: A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome)
Creators: Yasser Al-Sarraj - Qatar Biomedical Research Institute
Tawfeg Ben-Omran - Hamad Medical Corporation
Mohammed Tolefat - Shafallah Center
Yosra Bejaoui - Qatar Biomedical Research Institute
Hatem El-Shanti - University of Iowa
Marios Kambouris - Yale University
Resource Type: Journal article
Publication Details: Journal of inborn errors of metabolism and screening, Vol.2
DOI: 10.1177/2326409814550528
ISSN: 2326-4594
eISSN: 2326-4594
Publisher: Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT)
Language: Portuguese
Date published: 01/2014
Academic Unit: Stead Family Department of Pediatrics; Medical Genetics and Genomics
Record Identifier: 9984354513302771

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