A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58.

doi:10.1093/hmg/ddaa075

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Article

A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58.

Human molecular genetics - 3 Jun 2020

Lezirovitz Karina, Vieira-Silva Gleiciele A, Batissoco Ana C, Levy Débora, Kitajima Joao P, Trouillet Alix, Ouyang Ellen, Zebarjadi Navid, Sampaio-Silva Juliana, Pedroso-Campos Vinicius, Nascimento Larissa R, Sonoda Cindy Y, Borges Vinícius M, Vasconcelos Laura G, Beck Roberto M O, Grasel Signe S, Jagger Daniel J, Grillet Nicolas, Bento Ricardo F, Mingroni-Netto Regina C, Oiticica Jeanne

Abstract excerpt

Here we define a ~200 Kb genomic duplication in 2p14 as the genetic signature that segregates with postlingual progressive sensorineural autosomal dominant hearing loss (HL) in 20 affected individuals from the DFNA58 family, first reported in 2009. The duplication includes two entire genes, PLEK and CNRIP1, and the first exon of PPP3R1 (protein coding), in addition to four uncharacterized long non-coding (lnc)...

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PMID: 32337552
DOI: 10.1093/hmg/ddaa075
PMCID: PMC7268784

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