Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta |
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Authors: | Bozena Polok Pascal Escher Aude Ambresin Eliane Chouery Sylvain Bolay Isabelle Meunier Francis Nan Christian Hamel Francis L Munier Bernard Thilo Andr Mgarban and Daniel F Schorderet |
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Institution: | 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 |
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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. |
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