Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.

TitleMutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
Publication TypeJournal Article
Year of Publication2015
AuthorsTanaka, AJ, Cho, MT, Millan, F, Juusola, J, Retterer, K, Joshi, C, Niyazov, D, Garnica, A, Gratz, E, Deardorff, M, Wilkins, A, Ortiz-Gonzalez, X, Mathews, K, Panzer, K, Brilstra, E, van Gassen, KLI, Volker-Touw, CML, van Binsbergen, E, Sobreira, N, Hamosh, A, McKnight, D, Monaghan, KG, Chung, WK
JournalAm J Hum Genet
Date Published2015 Sep 03
KeywordsAbnormalities, Multiple, Amino Acid Sequence, ATPases Associated with Diverse Cellular Activities, Base Sequence, Exome, Female, Gene Frequency, Genes, Recessive, Hearing Loss, Homeodomain Proteins, Humans, Intellectual Disability, Male, Microcephaly, Molecular Sequence Data, Mutation, Seizures, Sequence Alignment, Sequence Analysis, DNA

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 in spermatogenesis-associated protein 5 (SPATA5). SPATA5 encodes a ubiquitously expressed member of the ATPase associated with diverse activities (AAA) protein family and is involved in mitochondrial morphogenesis during early spermatogenesis. It might also play a role in post-translational modification during cell differentiation in neuronal development. Mutations in SPATA5 might affect brain development and function, resulting in microcephaly, developmental delay, and intellectual disability.

Alternate JournalAm. J. Hum. Genet.
PubMed ID26299366
PubMed Central IDPMC4564988
Grant ListU54 HG006542 / HG / NHGRI NIH HHS / United States
1U54HG006542 / HG / NHGRI NIH HHS / United States