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

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 suspecte...

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Detalles Bibliográficos
Autores principales: Kohmoto, Tomohiro, Shono, Miki, Naruto, Takuya, Watanabe, Miki, Suga, Ken-ichi, Nakagawa, Ryuji, Kagami, Shoji, Masuda, Kiyoshi, Imoto, Issei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4823376/
https://www.ncbi.nlm.nih.gov/pubmed/27081570
http://dx.doi.org/10.1038/hgv.2016.4
Descripción
Sumario: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)].

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