[PDF][PDF] Mutations in SPATA5 are associated with microcephaly, intellectual disability, seizures, and hearing loss

AJ Tanaka, MT Cho, F Millan, J Juusola… - The American Journal of …, 2015 - cell.com
AJ Tanaka, MT Cho, F Millan, J Juusola, K Retterer, C Joshi, D Niyazov, A Garnica, E Gratz…
The American Journal of Human Genetics, 2015cell.com
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 …
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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