2. Academic Validation
  3. Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

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

  • Am J Hum Genet. 2015 Sep 3;97(3):457-64. doi: 10.1016/j.ajhg.2015.07.014.
Akemi J Tanaka 1,  Megan T Cho 2,  Francisca Millan 2,  Jane Juusola 2,  Kyle Retterer 2,  Charuta Joshi 3,  Dmitriy Niyazov 4,  Adolfo Garnica 5,  Edward Gratz 6,  Matthew Deardorff 7,  Alisha Wilkins 7,  Xilma Ortiz-Gonzalez 8,  Katherine Mathews 3,  Karin Panzer 9,  Eva Brilstra 10,  Koen L I van Gassen 10,  Catharina M L Volker-Touw 10,  Ellen van Binsbergen 10,  Nara Sobreira 11,  Ada Hamosh 11,  Dianalee McKnight 2,  Kristin G Monaghan 2,  Wendy K Chung 12
Affiliations

Affiliations

  • 1 Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA.
  • 2 GeneDx, Gaithersburg, MD 20877, USA.
  • 3 Departments of Pediatrics and Neurology, University of Iowa Children's Hospital, Iowa City, IA 52242, USA.
  • 4 Department of Pediatrics, Division of Medical Genetics, Ochsner Health System, New Orleans, LA 70121, USA.
  • 5 Arkansas Children's Hospital, Little Rock, AR 72202, USA.
  • 6 Child Neurology, Gratz & Shafrir, M.D., Baltimore, MD 21215, USA.
  • 7 Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
  • 8 Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
  • 9 Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, IA 52242, USA.
  • 10 Department of Medical Genetics, University Medical Center Utrecht, Utrecht 3584, the Netherlands.
  • 11 McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287, USA.
  • 12 Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA; Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA. Electronic address: wkc15@columbia.edu.
PMID: 26299366 DOI: 10.1016/j.ajhg.2015.07.014
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.

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