Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 97, Issue 3, Pages 457-464Publisher
CELL PRESS
DOI: 10.1016/j.ajhg.2015.07.014
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Funding
- Simons Foundation
- National Human Genome Research Institute [1U54HG006542]
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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.
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