title: [Hereditary sensorineural hearing impairment and macrothrombocytopenia: a rare MYH9 gene mutation].
abstract: We report on a rare case of an exon 16 mutation of the MYH9 gene in a 23-year-old woman. This gene encodes for non-muscular myosin IIA, which acts as a cytoskeletal contractile protein in diverse cell types. This disorder led to sensorineural hearing loss, macrothrombocytopenia, and proteinuria. MYH9 gene mutation can lead to diverse organ manifestation like pre-senile cataract or renal failure which are progressive in course. Due to the current lack of causal treatment, diagnostic steps, advice for follow-up examinations and symptomatic therapy approaches are presented.
authors.affiliation: Klinik und Poliklinik für Hals-, Nasen- und Ohrenheilkunde, Kopf- und Neurozentrum, Universitätsklinikum Hamburg-Eppendorf, Deutschland. ar.boettcher@uke.de
authors.forename: A
authors.initials: A
authors.lastname: Böttcher
authors.forename: R
authors.initials: R
authors.lastname: Knecht
authors.forename: C-J
authors.initials: CJ
authors.lastname: Busch
authors.forename: B B
authors.initials: BB
authors.lastname: Lörincz
authors.forename: C V
authors.initials: CV
authors.lastname: Dalchow
mesh_terms: D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D006801:Humans; D020409:Molecular Motor Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D018995:Myosin Heavy Chains / Q000235:genetics*; D013921:Thrombocytopenia / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D055815:Young Adult
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains