Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss
作者： Akemi J. Tanaka , Megan T. Cho , Francisca Millan , Jane Juusola , Kyle Retterer
DOI: 10.1016/J.AJHG.2015.07.014
关键词: Hearing loss 、 Sensorineural hearing loss 、 Cortical visual impairment 、 Bioinformatics 、 Exome 、 Microcephaly 、 Mutation 、 Hypotonia 、 Genetics 、 Intellectual disability 、 Biology
摘要: Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures, sensorineural hearing loss, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants spermatogenesis-associated protein 5 (SPATA5). SPATA5 encodes a ubiquitously expressed member of the ATPase associated diverse activities (AAA) family is involved mitochondrial morphogenesis during early spermatogenesis. It might also play role post-translational modification cell differentiation neuronal development. Mutations affect brain development function, resulting disability.
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