title: Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.
abstract: Biallelic mutations in the SPATA5 gene, encoding ATPase family protein, are an important cause of newly recognized epileptic encephalopathy classified as epilepsy, hearing loss, and mental retardation syndrome (EHLMRS, OMIM: 616577). Herein we describe a family in which two SPATA5 mutations with established pathogenicity (p.Thr330del and c.1714+1G>A) were found in the proband and her younger sister. The proband had a similar clinical picture to the previous descriptions of EHLMRS. In the sister, the only manifestation was an isolated sensorineural hearing loss. Our findings extend the phenotypic spectrum of SPATA5-associated diseases and indicate that SPATA5 defects may account for a fraction of isolated sensorineural hearing impairment cases.
authors.affiliation: Department of Medical Genetics, Warsaw Medical University, 3C Pawinskiego Street, 02-106, Warsaw, Poland.
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Szczałuba
authors.affiliation: Department of Experimental and Clinical Neuropathology, Mossakowski Medical Research Center, Polish Academy of Sciences, Warsaw, Poland.
authors.forename: Krystyna
authors.initials: K
authors.lastname: Szymańska
authors.affiliation: Department of Medical Genetics, Warsaw Medical University, 3C Pawinskiego Street, 02-106, Warsaw, Poland.
authors.forename: Joanna
authors.initials: J
authors.lastname: Kosińska
authors.affiliation: Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Pollak
authors.affiliation: Department of Medical Genetics, Warsaw Medical University, 3C Pawinskiego Street, 02-106, Warsaw, Poland.|Postgraduate School of Molecular Medicine, Warsaw, Poland.
authors.forename: Victor
authors.initials: V
authors.lastname: Murcia
authors.affiliation: Department of Medical Genetics, Warsaw Medical University, 3C Pawinskiego Street, 02-106, Warsaw, Poland.|Postgraduate School of Molecular Medicine, Warsaw, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Kędra
authors.affiliation: Department of Medical Genetics, Warsaw Medical University, 3C Pawinskiego Street, 02-106, Warsaw, Poland.|Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland.
authors.forename: Piotr
authors.initials: P
authors.lastname: Stawiński
authors.affiliation: Department of Medical Genetics, Warsaw Medical University, 3C Pawinskiego Street, 02-106, Warsaw, Poland.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Rydzanicz
authors.affiliation: Department of Laboratory Diagnostics and Clinical Immunology of Developmental Age, Warsaw Medical University, Warsaw, Poland.
authors.forename: Urszula
authors.initials: U
authors.lastname: Demkow
authors.affiliation: Department of Medical Genetics, Warsaw Medical University, 3C Pawinskiego Street, 02-106, Warsaw, Poland. rploski@wp.pl.
authors.forename: Rafał
authors.initials: R
authors.lastname: Płoski
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D004827:Epilepsy / Q000235:genetics; D005260:Female; D034381:Hearing Loss / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D010375:Pedigree
chemical_list: D018398:Homeodomain Proteins; C000603255:SPATA5 protein, human; D000074183:ATPases Associated with Diverse Cellular Activities
keywords: ATPase family protein; Epileptic encephalopathy; Exome sequencing; Hearing loss; Mental retardation; Mutations; SPATA5; Sensorineural deficit