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

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 HamoshDianalee McKnight, Kristin G. Monaghan, Wendy K. Chung

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118 Scopus citations

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.

Original language	English (US)
Article number	1926
Pages (from-to)	457-464
Number of pages	8
Journal	American Journal of Human Genetics
Volume	97
Issue number	3
DOIs	https://doi.org/10.1016/j.ajhg.2015.07.014
State	Published - Sep 3 2015
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Tanaka, A. J., Cho, M. T., Millan, F., Juusola, J., Retterer, K., Joshi, C., Niyazov, D., Garnica, A., Gratz, E., Deardorff, M., Wilkins, A., Ortiz-Gonzalez, X., Mathews, K., Panzer, K., Brilstra, E., Van Gassen, K. L. I., Volker-Touw, C. M. L., Van Binsbergen, E., Sobreira, N., ... Chung, W. K. (2015). Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss. American Journal of Human Genetics, 97(3), 457-464. Article 1926. https://doi.org/10.1016/j.ajhg.2015.07.014

Tanaka, AJ, Cho, MT, Millan, F, Juusola, J, Retterer, K, Joshi, C, Niyazov, D, Garnica, A, Gratz, E, Deardorff, M, Wilkins, A, Ortiz-Gonzalez, X, Mathews, K, Panzer, K, Brilstra, E, Van Gassen, KLI, Volker-Touw, CML, Van Binsbergen, E, Sobreira, N, Hamosh, A, McKnight, D, Monaghan, KG & Chung, WK 2015, 'Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss', American Journal of Human Genetics, vol. 97, no. 3, 1926, pp. 457-464. https://doi.org/10.1016/j.ajhg.2015.07.014

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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.",

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

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doi = "10.1016/j.ajhg.2015.07.014",

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AU - Cho, Megan T.

AU - Millan, Francisca

AU - Juusola, Jane

AU - Retterer, Kyle

AU - Joshi, Charuta

AU - Niyazov, Dmitriy

AU - Garnica, Adolfo

AU - Gratz, Edward

AU - Deardorff, Matthew

AU - Wilkins, Alisha

AU - Ortiz-Gonzalez, Xilma

AU - Mathews, Katherine

AU - Panzer, Karin

AU - Brilstra, Eva

AU - Van Gassen, Koen L.I.

AU - Volker-Touw, Catharina M.L.

AU - Van Binsbergen, Ellen

AU - Sobreira, Nara

AU - Hamosh, Ada

AU - McKnight, Dianalee

AU - Monaghan, Kristin G.

AU - Chung, Wendy K.

PY - 2015/9/3

Y1 - 2015/9/3

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

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