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Clin Genet. 2015 Sep;88(3):288-92. doi: 10.1111/cge.12492. Epub 2014 Nov 13.

Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders.

Author information

1
Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan.
2
Laboratory for Medical Science Mathematics, Center for Integrative Medical Sciences, RIKEN, Yokohama, Japan.
3
Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan.
4
Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
5
Department of Pediatric Neurosurgery, Takatsuki General Hospital, Osaka, Japan.
6
Division of Biomedical Information Analysis, Iwate Tohoku Medical Megabank Organization, Iwate Medical University, Iwate, Japan.
7
Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
8
Division of Regenerative Medicine, Institute for Clinical Research, Osaka National Hospital, National Hospital Organization, Osaka, Japan.
9
Department of Neurosurgery, Osaka National Hospital, National Hospital Organization, Osaka, Japan.

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.

KEYWORDS:

Baraitser-Winter syndrome; DYRK1A; GABRD; next-generation sequencing

PMID:
25156961
DOI:
10.1111/cge.12492
[Indexed for MEDLINE]

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