AUTHOR=Lee Jiwon , Park Jong Eun , Lee Chung , Kim Ah Reum , Kim Byung Joon , Park Woong-Yang , Ki Chang-Seok , Lee Jeehun TITLE=Genomic Analysis of Korean Patient With Microcephaly JOURNAL=Frontiers in Genetics VOLUME=11 YEAR=2021 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2020.543528 DOI=10.3389/fgene.2020.543528 ISSN=1664-8021 ABSTRACT=
Microcephaly is a prevalent phenotype in patients with neurodevelopmental problems, often with genetic causes. We comprehensively investigated the clinical phenotypes and genetic background of microcephaly in 40 Korean patients. We analyzed their clinical phenotypes and radiologic images and conducted whole exome sequencing (WES) and analysis of copy number variation (CNV). Infantile hypotonia and developmental delay were present in all patients. Thirty-four patients (85%) showed primary microcephaly. The diagnostic yield from the WES and CNV analyses was 47.5%. With WES, we detected pathogenic or likely pathogenic variants that were previously associated with microcephaly in 12 patients (30%); nine of these were