title: Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders.
abstract: We developed a next-generation sequencing (NGS) based mutation screening strategy for neurodevelopmental diseases. Using this system, we screened 284 genes in 40 patients. Several novel mutations were discovered. Patient 1 had a novel mutation in ACTB. Her dysmorphic feature was mild for Baraitser-Winter syndrome. Patient 2 had a truncating mutation of DYRK1A. She lacked microcephaly, which was previously assumed to be a constant feature of DYRK1A loss of function. Patient 3 had a novel mutation in GABRD gene. She showed Rett syndrome like features. Patient 4 was diagnosed with Noonan syndrome with PTPN11 mutation. He showed complete agenesis of corpus callosum. We have discussed these novel findings.
authors.affiliation: Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Okamoto
authors.affiliation: Laboratory for Medical Science Mathematics, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
authors.forename: F
authors.initials: F
authors.lastname: Miya
authors.affiliation: Laboratory for Medical Science Mathematics, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Tsunoda
authors.affiliation: Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Kato
authors.affiliation: Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Saitoh
authors.affiliation: Department of Pediatric Neurosurgery, Takatsuki General Hospital, Osaka, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Yamasaki
authors.affiliation: Division of Biomedical Information Analysis, Iwate Tohoku Medical Megabank Organization, Iwate Medical University, Iwate, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Shimizu
authors.affiliation: Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: C
authors.initials: C
authors.lastname: Torii
authors.affiliation: Division of Regenerative Medicine, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization, Osaka, Japan.|Department of Neurosurgery, Osaka National Hospital, National Hospital Organization, Osaka, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Kanemura
authors.affiliation: Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Kosaki
mesh_terms: D000199:Actins / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D065886:Neurodevelopmental Disorders / Q000175:diagnosis* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11 / Q000235:genetics; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D011963:Receptors, GABA-A / Q000235:genetics; D000097603:Dyrk Kinases
chemical_list: D000199:Actins; D017346:Protein Serine-Threonine Kinases; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D011505:Protein-Tyrosine Kinases; D011963:Receptors, GABA-A; D000097603:Dyrk Kinases; C464500:GABRD protein, human; C516724:PTPN11 protein, human
keywords: Baraitser-Winter syndrome; DYRK1A; GABRD; next-generation sequencing