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

Akemi J. Tanaka, Megan T. Cho, Francisca Millan, Jane Juusola, Kyle Retterer, Charuta Joshi, Dmitriy Niyazov, Adolfo Garnica, Edward Gratz, Matthew Deardorff, Alisha Wilkins, Xilma Ortiz-Gonzalez, Katherine Mathews, Karin Panzer, Eva Brilstra, Koen L.I. Van Gassen, Catharina M.L. Volker-Touw, Ellen Van Binsbergen, Nara Sobreira, Ada HamoshDianalee McKnight, Kristin G. Monaghan, Wendy K. Chung

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish (US)
Article number1926
Pages (from-to)457-464
Number of pages8
JournalAmerican journal of human genetics
Volume97
Issue number3
DOIs
StatePublished - Sep 3 2015

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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