Journal
CLINICAL GENETICS
Volume 88, Issue 3, Pages 288-292Publisher
WILEY
DOI: 10.1111/cge.12492
Keywords
Baraitser-Winter syndrome; DYRK1A; GABRD; next-generation sequencing
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Funding
- Research on Applying Health Technology from the Ministry of Health, Labor and Welfare of Japan
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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.
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