Open AccessA novel de novo RNF216 mutation associated with autosomal recessive Huntington‐like disorder
Author(s) -
Chen KeLiang,
Zhao GuiXian,
Wang He,
Wei Lei,
Huang YuYuan,
Chen ShiDong,
Lin BiYing,
Dong Qiang,
Cui Mei,
Yu JinTai
Publication year - 2020
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51047
Subject(s) - medicine , mutation , exon , exome sequencing , atrophy , genetic disorder , genetics , genetic counseling , exome , pathology , gene , biology , disease
Mutations in RNF216 have been found to be associated with autosomal recessive Huntington‐like disorder. Here, we describe a patient with Huntington‐like disorder caused by a novel de novo RNF216 mutation. The patient started to have choreatic movements of both hands, slowly progressing to head, face, and four extremities, with prominent cognitive deterioration. White matter lesions in cerebral hemispheres and brainstem, cerebellar atrophy, and low gonadotropin serum levels have been demonstrated. We have identified a homozygous deletion of exon 2 in the RNF216 gene by whole‐exome sequencing. Our findings increased genetic knowledge of autosomal recessive Huntington‐like disorder and extended the ethnic distribution of RNF216 mutations.