Targeted next‐generation sequencing in the diagnosis of neurodevelopmental disorders. (13th November 2014)

• Record Type: Journal Article
• Authors: Okamoto, N.; Miya, F.; Tsunoda, T.; Kato, M.; Saitoh, S.; Yamasaki, M.; Shimizu, A.; Torii, C.; Kanemura, Y.; Kosaki, K.
• Is Part Of: Clinical genetics. Volume 88:Number 3(2015:Sep.)
• Page Start: 288
• Page End: 292
• Publication Date: 2014-11-13
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12492
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main" id="cge12492-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p id="cge12492-para-0001">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 <italic>ACTB</italic>. Her dysmorphic feature was mild for Baraitser‐Winter syndrome. Patient 2 had a truncating mutation of <italic>DYRK1A</italic>. She lacked microcephaly, which was previously assumed to be a constant feature of <italic>DYRK1A</italic> loss of function. Patient 3 had a novel mutation in <italic>GABRD</italic> gene. She showed Rett syndrome like features. Patient 4 was diagnosed with Noonan syndrome with <italic>PTPN11</italic> mutation. He showed complete agenesis of corpus callosum. We have discussed these novel findings.</p> </abstract>