Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.

doi:10.1016/j.ajhg.2016.07.009

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Article

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.

American journal of human genetics - 1 Sept 2016

Nikopoulos Konstantinos, Farinelli Pietro, Giangreco Basilio, Tsika Chrysanthi, Royer-Bertrand Beryl, Mbefo Martial K, Bedoni Nicola, Kjellström Ulrika, El Zaoui Ikram, Di Gioia Silvio Alessandro, Balzano Sara, Cisarova Katarina, Messina Andrea, Decembrini Sarah, Plainis Sotiris, Blazaki Styliani V, Khan Muhammad Imran, Micheal Shazia, Boldt Karsten, Ueffing Marius, Moulin Alexandre P, Cremers Frans P M, Roepman Ronald, Arsenijevic Yvan, Tsilimbaris Miltiadis K, Andréasson Sten, Rivolta Carlo

Abstract excerpt

Cone-rod degeneration (CRD) belongs to the disease spectrum of retinal degenerations, a group of hereditary disorders characterized by an extreme clinical and genetic heterogeneity. It mainly differentiates from other retinal dystrophies, and in particular from the more frequent disease retinitis pigmentosa, because cone photoreceptors degenerate at a higher rate than rod photoreceptors, causing severe deficiency...

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Identifiers

PMID: 27588451
DOI: 10.1016/j.ajhg.2016.07.009
PMCID: PMC5011074

Genes

CEP78

Variants

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