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Targeted next‐generation sequencing in the diagnosis of neurodevelopmental disorders
Author(s) -
Okamoto N.,
Miya F.,
Tsunoda T.,
Kato M.,
Saitoh S.,
Yamasaki M.,
Shimizu A.,
Torii C.,
Kanemura Y.,
Kosaki K.
Publication year - 2015
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12492
Subject(s) - microcephaly , noonan syndrome , ptpn11 , mutation , rett syndrome , agenesis of the corpus callosum , genetics , intellectual disability , medicine , dna sequencing , neurodevelopmental disorder , missense mutation , biology , bioinformatics , gene , corpus callosum , pathology , kras
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.