Dataset Information

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

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.

SUBMITTER: Tanaka AJ

PROVIDER: S-EPMC4564988 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature

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

Tanaka Akemi J AJ Cho Megan T MT Millan Francisca F Juusola Jane J Retterer Kyle K Joshi Charuta C Niyazov Dmitriy D Garnica Adolfo A Gratz Edward E Deardorff Matthew M Wilkins Alisha A Ortiz-Gonzalez Xilma X Mathews Katherine K Panzer Karin K Brilstra Eva E van Gassen Koen L I KL Volker-Touw Catharina M L CM van Binsbergen Ellen E Sobreira Nara N Hamosh Ada A McKnight Dianalee D Monaghan Kristin G KG Chung Wendy K WK

American journal of human genetics 20150820 3

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 morphog ...[more]

PMID: 26299366

Dataset Information

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

Publications

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

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