Universität zu Köln

Neuhaus, C., Lang-Roth, R., Zimmermann, U., Heller, R., Eisenberger, T., Weikert, M., Markus, S., Knipper, M. and Bolz, H. J. (2017). Extension of the clinical and molecular phenotype of DIAPH1-associated autosomal dominant hearing loss (DFNA1). Clin. Genet., 91 (6). S. 892 - 902. HOBOKEN: WILEY. ISSN 1399-0004

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Abstract

In about 20% of non-syndromic hearing loss (NSHL) cases, inheritance is autosomal dominant (ADNSHL). DIAPH1 mutations define the ADNSHL locus DFNA1. We identified two new families with heterozygous truncating DIAPH1 mutations (p.Ala1210Serfs*31 and p.Arg1213*). In contrast to the extensively studied original DFNA1 family, hearing loss was not confined to low frequencies, but congenital manifestation and rapid progression were confirmed. In line with a recent unrelated study, we identified an association with thrombocytopenia, reclassifying DFNA1 as a syndrome. Consequently, we suggest to include the blood count into the initial clinical workup of patients with autosomal dominant hearing loss to guide the genetic diagnosis. We provide the first data on DIAPH1 expression in the organ of Corti, where it localizes to the inner pillar cells, at the base of the outer hair cells. Homozygous truncating DIAPH1 mutations located N-terminally to the DFNA1 mutations have recently been identified in autosomal recessive microcephaly. It is therefore noteworthy that we found DIAPH1 expression also in spiral ganglion neurons and in the barrier between the myelinating glia of the peripheral nervous system and oligodendrocytes that form the myelinating glia of the central nervous system (CNS).

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Neuhaus, C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lang-Roth, R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Zimmermann, U. UNSPECIFIED UNSPECIFIED UNSPECIFIED Heller, R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Eisenberger, T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Weikert, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Markus, S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Knipper, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bolz, H. J. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-229328
DOI:	10.1111/cge.12915
Journal or Publication Title:	Clin. Genet.
Volume:	91
Number:	6
Page Range:	S. 892 - 902
Date:	2017
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1399-0004
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language AUDIOMETRIC SPEECH TEST; MESSENGER-RNA; GENE; SEQUENCE; DEAFNESS; DIAPH1; ACTIN; MUTATIONS; CELL; MACROTHROMBOCYTOPENIA Multiple languages Genetics & Heredity Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/22932