A Novel Glycine Decarboxylase Gene Mutation in an Indian Family With Nonketotic Hyperglycinemia-Reference-Cited by-同舟云学术

A Novel Glycine Decarboxylase Gene Mutation in an Indian Family With Nonketotic Hyperglycinemia

Published:2013-01-24 Issue:1 Volume:29 Page:122-127
ISSN:0883-0738
Container-title:Journal of Child Neurology
language:en
Short-container-title:J Child Neurol

Author:

Love Jennifer M.¹,Prosser Debra¹,Love Donald R.¹²,Chintakindi Krishna Prakash³,Dalal Ashwin B.³,Aggarwal Shagun³⁴

Affiliation:

1. Diagnostic Genetics, LabPlus, Auckland City Hospital, Auckland, New Zealand

2. School of Biological Sciences, University of Auckland, Auckland, New Zealand

3. Diagnostic Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, Andhra Pradesh, India

4. Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, Andhra Pradesh, India

Abstract

Nonketotic hyperglycinemia is an inborn error of glycine metabolism. It manifests mostly as an acute encephalopathy in the neonatal period, although later, atypical presentations have also been reported. Mutations in 3 different genes have been implicated in nonketotic hyperglycinemia. Here we report a novel mutation, c.2296G>T (p.Gly766Cys), in exon 19 of the glycine decarboxylase ( GLDC) gene (Refseq accession number NM_000170.2) in a consanguineous Indian couple with a history of 4 neonatal deaths.

Publisher

SAGE Publications

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

Link

http://journals.sagepub.com/doi/pdf/10.1177/0883073812471432

Reference25 articles.

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4. Clinical variability in glycine encephalopathy

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