Article
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Clinical genetics - 1 Jul 2021
Hiraide Takuya, Yamoto Kaori, Masunaga Yohei, Asahina Miki, Endoh Yusaku, Ohkubo Yumiko, Matsubayashi Tomoko, Tsurui Satoshi, Yamada Hidetaka, Yanagi Kumiko, Nakashima Mitsuko, Hirano Kouichi, Sugimura Haruhiko, Fukuda Tokiko, Ogata Tsutomu, Saitsu Hirotomo
Abstract excerpt
Whole-exome sequencing (WES) enables identification of pathogenic variants, including copy number variants (CNVs). In this study, we performed WES in 101 Japanese patients with unexplained developmental delay (DD) or intellectual disability (ID) (63 males and 38 females), 98 of them with trio-WES. Pathogenic variants were identified in 54 cases (53.5%), including four cases with pathogenic CNVs. In one case, a...
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