Article
Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa.
Human molecular genetics - 15 Feb 2018
Weisz Hubshman Monika, Broekman Sanne, van Wijk Erwin, Cremers Frans, Abu-Diab Alaa, Khateb Samer, Tzur Shay, Lagovsky Irina, Smirin-Yosef Pola, Sharon Dror, Haer-Wigman Lonneke, Banin Eyal, Basel-Vanagaite Lina, de Vrieze Erik
Abstract excerpt
Retinitis pigmentosa (RP), the most common form of inherited retinal degeneration, is associated with different groups of genes, including those encoding proteins involved in centriole and cilium biogenesis. Exome sequencing revealed a homozygous nonsense mutation [c.304_305delGA (p. D102*)] in POC5, encoding the Proteome Of Centriole 5 protein, in a patient with RP, short stature, microcephaly and recurrent...
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