title: 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.
authors: Department of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA.
authors: Akemi J
authors: AJ
authors: Tanaka
authors: GeneDx, Gaithersburg, MD 20877, USA.
authors: Megan T
authors: MT
authors: Cho
authors: GeneDx, Gaithersburg, MD 20877, USA.
authors: Francisca
authors: F
authors: Millan
authors: GeneDx, Gaithersburg, MD 20877, USA.
authors: Jane
authors: J
authors: Juusola
authors: GeneDx, Gaithersburg, MD 20877, USA.
authors: Kyle
authors: K
authors: Retterer
authors: Departments of Pediatrics and Neurology, University of Iowa Children's Hospital, Iowa City, IA 52242, USA.
authors: Charuta
authors: C
authors: Joshi
authors: Department of Pediatrics, Division of Medical Genetics, Ochsner Health System, New Orleans, LA 70121, USA.
authors: Dmitriy
authors: D
authors: Niyazov
authors: Arkansas Children's Hospital, Little Rock, AR 72202, USA.
authors: Adolfo
authors: A
authors: Garnica
authors: Child Neurology, Gratz & Shafrir, M.D., Baltimore, MD 21215, USA.
authors: Edward
authors: E
authors: Gratz
authors: Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
authors: Matthew
authors: M
authors: Deardorff
authors: Department of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
authors: Alisha
authors: A
authors: Wilkins
authors: Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
authors: Xilma
authors: X
authors: Ortiz-Gonzalez
authors: Departments of Pediatrics and Neurology, University of Iowa Children's Hospital, Iowa City, IA 52242, USA.
authors: Katherine
authors: K
authors: Mathews
authors: Department of Pediatrics, University of Iowa Children's Hospital, Iowa City, IA 52242, USA.
authors: Karin
authors: K
authors: Panzer
authors: Department of Medical Genetics, University Medical Center Utrecht, Utrecht 3584, the Netherlands.
authors: Eva
authors: E
authors: Brilstra
authors: Department of Medical Genetics, University Medical Center Utrecht, Utrecht 3584, the Netherlands.
authors: Koen L I
authors: KL
authors: van Gassen
authors: Department of Medical Genetics, University Medical Center Utrecht, Utrecht 3584, the Netherlands.
authors: Catharina M L
authors: CM
authors: Volker-Touw
authors: Department of Medical Genetics, University Medical Center Utrecht, Utrecht 3584, the Netherlands.
authors: Ellen
authors: E
authors: van Binsbergen
authors: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287, USA.
authors: Nara
authors: N
authors: Sobreira
authors: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287, USA.
authors: Ada
authors: A
authors: Hamosh
authors: GeneDx, Gaithersburg, MD 20877, USA.
authors: Dianalee
authors: D
authors: McKnight
authors: GeneDx, Gaithersburg, MD 20877, USA.
authors: Kristin G
authors: KG
authors: Monaghan
authors: 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.
authors: Wendy K
authors: WK
authors: Chung
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000595:Amino Acid Sequence; D001483:Base Sequence; D059472:Exome / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005808:Genes, Recessive; D034381:Hearing Loss / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D012640:Seizures / Q000235:genetics*; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA
chemical_list: D018398:Homeodomain Proteins; C000603255:SPATA5 protein, human; D000074183:ATPases Associated with Diverse Cellular Activities