Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma

Roma are a socially and culturally distinct isolated population with genetically divergent subisolates, residing mainly across Central, Southern, and Eastern Europe. We evaluated the genetic etiology of hearing impairment (HI) in 15 Hungarian Roma families through exome sequencing. A family with aut...

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Veröffentlicht in:	European journal of human genetics : EJHG Jg. 27; H. 6; S. 869 - 878
Hauptverfasser:	Schrauwen, Isabelle, Melegh, Béla I, Chakchouk, Imen, Acharya, Anushree, Nasir, Abdul, Poston, Alexis, Cornejo-Sanchez, Diana M, Szabo, Zsolt, Karosi, Tamás, Bene, Judit, Melegh, Béla, Leal, Suzanne M
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	England Nature Publishing Group 01.06.2019
Schlagworte:	Amino Acid Substitution Autosomal dominant inheritance Calponin Child Child, Preschool Chromosome Disorders - genetics Etiology Female Genes, Dominant Genetic diversity Genetic Loci Hair cells Hearing loss Hearing Loss - genetics Homology Humans Hungary Male Membrane Glycoproteins - genetics Microfilament Proteins - genetics Multidimensional scaling Mutation, Missense Population genetics Preservation Roma - genetics Scaling USH2A protein Hungary
ISSN:	1018-4813, 1476-5438, 1476-5438
Online-Zugang:	Volltext
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