Universität zu Köln

Lang-Roth, Ruth, Fischer-Krall, Eva, Kornblum, Cornelia, Nuernberg, Gudrun, Meschede, Dieter, Goebel, Ingrid, Nuernberg, Peter, Beutner, Dirk, Kubisch, Christian ORCID: 0000-0003-4220-0978, Walger, Martin and Volk, Alexander E. (2017). AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance. Audiol. Neuro-Otol., 22 (1). S. 30 - 41. BASEL: KARGER. ISSN 1421-9700

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Abstract

Background: Auditory synaptopathy/neuropathy (AS/AN) is a heterogeneous disorder, which may be caused by environmental factors like postnatal hyperbilirubinemia or by genetic factors. The genetic forms are subdivided into syndromic and non-syndromic types, and show different inheritance patterns with a strong preponderance of autosomal-recessive forms. To date, only a single locus for non-syndromic autosomal-dominant AS/AN (AUNA1) has been reported in a single family, in which a non-coding DIAPH3 mutation was subsequently described as causative. Materials and Methods: Here, we report detailed clinical data on a large German AS/AN family with slowly progressive postlingual hearing loss. Affected family members developed their first symptoms in their second decade. Mod erate hearing loss in the fourth decade then progressed to profound hearing impairment in older family members. Comprehensive audiological and neurological tests were performed in the affected family members. Genetic testing comprised linkage analyses with polymorphic markers and a genome-wide linkage analysis using the Affymetrix GeneChip (R) Human Mapping 250K. Results and Conclusion: We identified a large family with autosomal-dominant AS/AN. By means of linkage analyses, the AUNA1 locus was excluded, and putatively linked regions on chromosomal bands 12q24 and 13q34 were identified as likely carrying the second locus for autosomal-dominant AS/AN (AUNA2). AUNA2 is associated with a slowly progressive postlingual hearing loss without any evidence for additional symptoms in other organ systems. (C) 2017 S. Karger AG, Basel

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Lang-Roth, Ruth UNSPECIFIED UNSPECIFIED UNSPECIFIED Fischer-Krall, Eva UNSPECIFIED UNSPECIFIED UNSPECIFIED Kornblum, Cornelia UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Gudrun UNSPECIFIED UNSPECIFIED UNSPECIFIED Meschede, Dieter UNSPECIFIED UNSPECIFIED UNSPECIFIED Goebel, Ingrid UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Beutner, Dirk UNSPECIFIED UNSPECIFIED UNSPECIFIED Kubisch, Christian UNSPECIFIED orcid.org/0000-0003-4220-0978 UNSPECIFIED Walger, Martin UNSPECIFIED UNSPECIFIED UNSPECIFIED Volk, Alexander E. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-242982
DOI:	10.1159/000474929
Journal or Publication Title:	Audiol. Neuro-Otol.
Volume:	22
Number:	1
Page Range:	S. 30 - 41
Date:	2017
Publisher:	KARGER
Place of Publication:	BASEL
ISSN:	1421-9700
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language REVERSIBLE ENCEPHALOPATHY SYNDROME; AUDIOMETRIC SPEECH TEST; SPECTRUM DISORDER; HEARING-LOSS; RISK-FACTORS; GENETIC-ANALYSIS; CHILDREN; MUTATIONS; IMPAIRMENT; OTOFERLIN Multiple languages Audiology & Speech-Language Pathology; Neurosciences; Otorhinolaryngology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/24298