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A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome.

ABSTRACT: CHARGE syndrome is a rare autosomal dominant developmental disorder involving multiple organs. CHD7 is a major causative gene of CHARGE syndrome. We performed targeted-exome sequencing using a next-generation sequencer for molecular diagnosis of a 4-month-old male patient who was clinically suspected to have CHARGE syndrome, and report a novel monoallelic mutation in CHD7, NM_017780.3(CHD7_v001):c.2966del causing a reading frameshift [p.(Cys989Serfs*3)].

SUBMITTER: Kohmoto T

PROVIDER: S-EPMC4823376 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome.

Kohmoto Tomohiro T Shono Miki M Naruto Takuya T Watanabe Miki M Suga Ken-Ichi K Nakagawa Ryuji R Kagami Shoji S Masuda Kiyoshi K Imoto Issei I

Human genome variation 20160407

CHARGE syndrome is a rare autosomal dominant developmental disorder involving multiple organs. CHD7 is a major causative gene of CHARGE syndrome. We performed targeted-exome sequencing using a next-generation sequencer for molecular diagnosis of a 4-month-old male patient who was clinically suspected to have CHARGE syndrome, and report a novel monoallelic mutation in CHD7, NM_017780.3(CHD7_v001):c.2966del causing a reading frameshift [p.(Cys989Serfs*3)]. ...[more]

PMID: 27081570

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