Open AccessNovel KDM6A mutation in a Chinese infant with Kabuki syndrome: A case report
Author(s) -
Hong-Xian Guo,
Baowei Li,
Mei Hu,
Shihui Si,
Kai Feng
Publication year - 2021
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v9.i33.10257
Subject(s) - frameshift mutation , medicine , kabuki syndrome , mutation , pediatrics , macroglossia , genetics , hypotonia , gene , pathology , biology , tongue
Kabuki syndrome (KS) is a rare syndrome characterized by multisystem congenital anomalies and developmental disorder. KMT2D and KDM6A mutations were identified as the main causative genes in KS patients. There are few case reports and genetic analyses, especially of KDM6A gene mutation, in China.