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Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.
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ABSTRACT: Background
L-2-hydroxyglutaric aciduria (L2HGA) is a progressive neurometabolic disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Cardinal clinical features include cerebellar ataxia, epilepsy, neurodevelopmental delay, intellectual disability, and other clinical neurological deficits.Case presentation
We describe an index case of the family presented with generalised tonic-clonic seizure, developmental delay, intellectual disability, and ataxia. Initially, the differential diagnosis was difficult to be established and a SNP genome wide scan identified the candidate region on chromosome 14q22.1. DNA sequencing showed a novel homozygous mutation in the candidate gene L2HGDH (NM_024884.2: c.178G > A; p.Gly60Arg). The mutation p.Gly60Arg lies in the highly conserved FAD/NAD(P)-binding domain of this mitochondrial enzyme, predicted to disturb enzymatic function.Conclusions
The combination of homozygosity mapping and DNA sequencing identified a novel mutation in Pakistani family with variable clinical features. This is second report of a mutation in L2HGDH gene from Pakistan and the largest family with L2HGA reported to date.
SUBMITTER: Ullah MI
PROVIDER: S-EPMC5819255 | biostudies-literature | 2018 Feb
REPOSITORIES: biostudies-literature
Publications
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.
BMC medical genetics 20180220 1
<h4>Background</h4>L-2-hydroxyglutaric aciduria (L2HGA) is a progressive neurometabolic disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Cardinal clinical features include cerebellar ataxia, epilepsy, neurodevelopmental delay, intellectual disability, and other clinical neurological deficits.<h4>Case presentation</h4>We describe an index case of the family presented with generalised tonic-clonic seizure, developmental delay, intellectual disability, an ...[more]