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

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

doi:10.1016/j.ajhg.2015.07.014

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

Journal article

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Peer reviewed

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

Akemi J Tanaka, Megan T Cho, Francisca Millan, Jane Juusola, Kyle Retterer, Charuta Joshi, Dmitriy Niyazov, Adolfo Garnica, Edward Gratz, Matthew Deardorff, …

American journal of human genetics, Vol.97(3), pp.457-464

09/03/2015

DOI: 10.1016/j.ajhg.2015.07.014

PMCID: PMC4564988

PMID: 26299366

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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.

Abnormalities, Multiple - pathology

Amino Acid Sequence

ATPases Associated with Diverse Cellular Activities

Microcephaly - genetics

Seizures - genetics

Gene Frequency

Humans

Molecular Sequence Data

Male

Mutation - genetics

Genes, Recessive

Sequence Analysis, DNA

Homeodomain Proteins - genetics

Intellectual Disability - genetics

Hearing Loss - genetics

Exome - genetics

Sequence Alignment

Base Sequence

Female

Abnormalities, Multiple - genetics

Details

Title: Subtitle: Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss
Creators: Akemi J Tanaka - Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA
Megan T Cho - GeneDx, Gaithersburg, MD 20877, USA
Francisca Millan - GeneDx, Gaithersburg, MD 20877, USA
Jane Juusola - GeneDx, Gaithersburg, MD 20877, USA
Kyle Retterer - GeneDx, Gaithersburg, MD 20877, USA
Charuta Joshi - Departments of Pediatrics and Neurology, University of Iowa Children's Hospital, Iowa City, IA 52242, USA
Dmitriy Niyazov - Department of Pediatrics, Division of Medical Genetics, Ochsner Health System, New Orleans, LA 70121, USA
Adolfo Garnica - Arkansas Children's Hospital, Little Rock, AR 72202, USA
Edward Gratz - Child Neurology, Gratz & Shafrir, M.D., Baltimore, MD 21215, USA
Matthew Deardorff - Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA
Alisha Wilkins - Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA
Xilma Ortiz-Gonzalez - Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Katherine Mathews - Departments of Pediatrics and Neurology, University of Iowa Children's Hospital, Iowa City, IA 52242, USA
Karin Panzer - Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, IA 52242, USA
Eva Brilstra - Department of Medical Genetics, University Medical Center Utrecht, Utrecht 3584, the Netherlands
Koen L I van Gassen - Department of Medical Genetics, University Medical Center Utrecht, Utrecht 3584, the Netherlands
Catharina M L Volker-Touw - Department of Medical Genetics, University Medical Center Utrecht, Utrecht 3584, the Netherlands
Ellen van Binsbergen - Department of Medical Genetics, University Medical Center Utrecht, Utrecht 3584, the Netherlands
Nara Sobreira - McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287, USA
Ada Hamosh - McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287, USA
Dianalee McKnight - GeneDx, Gaithersburg, MD 20877, USA
Kristin G Monaghan - GeneDx, Gaithersburg, MD 20877, USA
Wendy K Chung - 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
Resource Type: Journal article
Publication Details: American journal of human genetics, Vol.97(3), pp.457-464
Publisher: United States
DOI: 10.1016/j.ajhg.2015.07.014
PMID: 26299366
PMCID: PMC4564988
ISSN: 0002-9297
eISSN: 1537-6605
Grant note: 1U54HG006542 / NHGRI NIH HHS U54 HG006542 / NHGRI NIH HHS
Language: English
Date published: 09/03/2015
Academic Unit: Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
Record Identifier: 9984013920202771

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