Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta
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 (SNIP) 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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Polok, B., Escber, P., Ambresin, A., Chouery, E., Bolay, S., Meunier, I., Nan, F., Hamel, C., Munier, F. L., Thilo, B., Megarbane, A., & Schorderet, D. F. (2009). Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta. American Journal of Human Genetics, 84, 259–265. https://doi.org/10.1016/j.ajhg.2009.01.006
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WOS:000263799700015
2009
84
259
265
REVIEWED
EPFL