Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.

doi:10.1016/j.ajhg.2011.11.015

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Article

Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement.

American journal of human genetics - 13 Jan 2012

Estrada-Cuzcano Alejandro, Neveling Kornelia, Kohl Susanne, Banin Eyal, Rotenstreich Ygal, Sharon Dror, Falik-Zaccai Tzipora C, Hipp Stephanie, Roepman Ronald, Wissinger Bernd, Letteboer Stef J F, Mans Dorus A, Blokland Ellen A W, Kwint Michael P, Gijsen Sabine J, van Huet Ramon A C, Collin Rob W J, Scheffer H, Veltman Joris A, Zrenner Eberhart, den Hollander Anneke I, Klevering B Jeroen, Cremers Frans P M

Abstract excerpt

Cone-rod dystrophy (CRD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. By using homozygosity mapping in an individual with autosomal-recessive (ar) RP from a consanguineous family, we identified three sizeable homozygous regions, together encompassing 46 Mb. Next-generation sequencing of all exons, flanking intron sequences, microRNAs, and other highly...

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PMID: 22177090
DOI: 10.1016/j.ajhg.2011.11.015
PMCID: PMC3257957

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