Universität zu Köln

Eisenberger, Tobias, Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Baig, Shahid M., Neuhaus, Christine, Beyer, Anke, Decker, Eva, Muerbe, Dirk, Decker, Christian, Bergmann, Carsten and Bolz, Hanno J. (2014). Targeted and Genomewide NGS Data Disqualify Mutations in MYO1A, the DFNA48 Gene, as a Cause of Deafness. Hum. Mutat., 35 (5). S. 565 - 571. HOBOKEN: WILEY. ISSN 1098-1004

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Abstract

MYO1A is considered the gene underlying autosomal dominant nonsyndromic hearing loss DFNA48, based on six missense variants, one small in-frame insertion, and one nonsense mutation. Results from NGS targeting 66 deafness genes in 109 patients identified three families challenging this assumption: two novel nonsense (p.Tyr740* and p.Arg262*) and a known missense variant were identified heterozygously not only in index patients, but also in unaffected relatives. Deafness in these families clearly resulted from mutations in other genes (MYO7A, EYA1, and CIB2). Most of the altogether 10 MYO1A mutations are annotated in dbSNP, and population frequencies (dbSNP, 1000 Genomes, Exome Sequencing Project) above 0.1% contradict pathogenicity under a dominant model. One healthy individual was even homozygous for p.Arg262*, compatible with homozygous Myo1a knockout mice lacking any overt pathology. MYO1A seems dispensable for hearing and overall nonessential. MYO1A adds to the list of erroneous disease genes, which will expand with increasing availability of large-scale sequencing data.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Eisenberger, Tobias UNSPECIFIED UNSPECIFIED UNSPECIFIED Di Donato, Nataliya UNSPECIFIED orcid.org/0000-0001-9439-4677 UNSPECIFIED Baig, Shahid M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Neuhaus, Christine UNSPECIFIED UNSPECIFIED UNSPECIFIED Beyer, Anke UNSPECIFIED UNSPECIFIED UNSPECIFIED Decker, Eva UNSPECIFIED UNSPECIFIED UNSPECIFIED Muerbe, Dirk UNSPECIFIED UNSPECIFIED UNSPECIFIED Decker, Christian UNSPECIFIED UNSPECIFIED UNSPECIFIED Bergmann, Carsten UNSPECIFIED UNSPECIFIED UNSPECIFIED Bolz, Hanno J. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-439016
DOI:	10.1002/humu.22532
Journal or Publication Title:	Hum. Mutat.
Volume:	35
Number:	5
Page Range:	S. 565 - 571
Date:	2014
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1098-1004
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language BORDER MYOSIN IA; MESSENGER-RNA; EXOME DATA; PATHOGENICITY; SUBSTITUTIONS; CONSEQUENCES; PREDICTION; TOOL Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/43901