MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.

doi:10.1016/j.ajhg.2018.05.011

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Article

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.

American journal of human genetics - 5 Jul 2018

Wesdorp Mieke, Murillo-Cuesta Silvia, Peters Theo, Celaya Adelaida M, Oonk Anne, Schraders Margit, Oostrik Jaap, Gomez-Rosas Elena, Beynon Andy J, Hartel Bas P, Okkersen Kees, Koenen Hans J P M, Weeda Jack, Lelieveld Stefan, Voermans Nicol C, Joosten Irma, Hoyng Carel B, Lichtner Peter, Kunst Henricus P M, Feenstra Ilse, de Bruijn Suzanne E, Admiraal Ronald J C, Yntema Helger G, van Wijk Erwin, Del Castillo Ignacio, Serra Pau, Varela-Nieto Isabel, Pennings Ronald J E, Kremer Hannie

Abstract excerpt

In a Dutch consanguineous family with recessively inherited nonsyndromic hearing impairment (HI), homozygosity mapping combined with whole-exome sequencing revealed a MPZL2 homozygous truncating variant, c.72del (p.Ile24Metfs∗22). By screening a cohort of phenotype-matched subjects and a cohort of HI subjects in whom WES had been performed previously, we identified two additional families with biallelic...

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Identifiers

PMID: 29961571
DOI: 10.1016/j.ajhg.2018.05.011
PMCID: PMC6037131

Genes

MPZL2

Variants

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