Szczałuba Krzysztof, Szymańska Krystyna, Kosińska Joanna, Pollak Agnieszka, Murcia Victor, Kędra Anna, Stawiński Piotr, Rydzanicz Małgorzata, Demkow Urszula, Płoski Rafał
Department of Medical Genetics, Warsaw Medical University, 3C Pawinskiego Street, 02-106, Warsaw, Poland.
Department of Experimental and Clinical Neuropathology, Mossakowski Medical Research Center, Polish Academy of Sciences, Warsaw, Poland.
Adv Exp Med Biol. 2017;980:59-66. doi: 10.1007/5584_2016_206.
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.
编码ATP酶家族蛋白的SPATA5基因双等位基因突变是新发现的癫痫性脑病的重要病因，该疾病被归类为癫痫、听力丧失和智力发育迟缓综合征（EHLMRS，OMIM：616577）。在此，我们描述了一个家系，在先证者及其妹妹中发现了两个已确定具有致病性的SPATA5突变（p.Thr330del和c.1714+1G>A）。先证者的临床表现与先前报道的EHLMRS相似。在其妹妹身上，唯一的表现是孤立性感音神经性听力损失。我们的研究结果扩展了SPATA5相关疾病的表型谱，并表明SPATA5缺陷可能是部分孤立性感音神经性听力障碍病例的病因。
