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Biochem Biophys Res Commun. 2013 Sep 27;439(3):369-72. doi: 10.1016/j.bbrc.2013.08.077. Epub 2013 Aug 30.

Novel FAM126A mutations in hypomyelination and congenital cataract disease.

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  • 1Department of Neuroscience, Istituto Giannina Gaslini, Genova, Italy.

Abstract

Hypomyelination and congenital cataract (HCC, OMIM #610532) is a rare autosomal recessive disorder due to FAM126A mutations characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in the central and peripheral nervous system. We have identified two novel mutations in three affected members of two unrelated families. Two sibs harbouring a microdeletion causing a premature stop in the protein showed the classical clinical and neuroradiologic HCC picture. The third patient carrying a missense mutation showed a relatively mild clinical picture without peripheral neuropathy. A residual amount of hyccin protein in primary fibroblasts was demonstrated by functional studies indicating that missense mutations are likely to have less detrimental effects if compared with splice-site mutations or deletions that cause the full-blown HCC phenotype, including peripheral nervous system involvement.

Copyright © 2013 Elsevier Inc. All rights reserved.

KEYWORDS:

Cataract; FAM126A gene; Myelination; White matter disorder

PMID:
23998934
[PubMed - indexed for MEDLINE]
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