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Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.

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.

SUBMITTER: Polok B 

PROVIDER: S-EPMC2668018 | biostudies-literature | 2009 Feb

REPOSITORIES: biostudies-literature

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Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.

Polok Bozena B   Escher Pascal P   Ambresin Aude A   Chouery Eliane E   Bolay Sylvain S   Meunier Isabelle I   Nan Francis F   Hamel Christian C   Munier Francis L FL   Thilo Bernard B   Mégarbané André A   Schorderet Daniel F DF  

American journal of human genetics 20090205 2

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  ...[more]

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