@article{Polok:160048, title = {Mutations in CNNM4 Cause Recessive Cone-Rod Dystrophy with Amelogenesis Imperfecta}, author = {Polok, Bozena and Escber, Pascal and Ambresin, Aude and Chouery, Eliane and Bolay, Sylvain and Meunier, Isabelle and Nan, Francis and Hamel, Christian and Munier, Francis L. and Thilo, Bernard and Megarbane, Andre and Schorderet, Daniel F.}, journal = {American Journal Of Human Genetics}, volume = {84}, pages = {259-265}, year = {2009}, 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 (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.}, url = {http://infoscience.epfl.ch/record/160048}, doi = {10.1016/j.ajhg.2009.01.006}, }