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Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta

By Bozena Polok, Pascal Escher, Aude Ambresin, Eliane Chouery, Sylvain Bolay, Isabelle Meunier, Francis Nan, Christian Hamel, Francis L. Munier, Bernard Thilo, André Mégarbané and Daniel F. Schorderet

Abstract

Cone-rod dystrophies are inherited dystrophies of the retina characterized by the accumulation of deposits mainly localized to the cone-rich macular region of the eye. Dystrophy can be limited to the retina or be part of a syndrome. Unlike nonsyndromic cone-rod dystrophies, syndromic cone-rod dystrophies are genetically heterogeneous with mutations in genes encoding structural, cell-adhesion, and transporter proteins. Using a genome-wide single-nucleotide polymorphism (SNP) haplotype analysis to fine map the locus and a gene-candidate approach, we identified homozygous mutations in the ancient conserved domain protein 4 gene (CNNM4) that either generate a truncated protein or occur in highly conserved regions of the protein. Given that CNNM4 is implicated in metal ion transport, cone-rod dystrophy and amelogenesis imperfecta may originate from abnormal ion homeostasis

Topics: Report
Publisher: Elsevier
OAI identifier: oai:pubmedcentral.nih.gov:2668018
Provided by: PubMed Central
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