Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
Am J Hum Genet
; 97(3): 457-64, 2015 Sep 03.
Article
en En
| MEDLINE
| ID: mdl-26299366
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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Convulsiones
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Anomalías Múltiples
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Proteínas de Homeodominio
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Pérdida Auditiva
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Discapacidad Intelectual
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Microcefalia
Tipo de estudio:
Risk_factors_studies
Límite:
Female
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Humans
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Male
Idioma:
En
Año:
2015
Tipo del documento:
Article