Background X-linked intellectual disability type Nascimento, also known as UBE2A deficiency syndrome, is an intellectual disability syndrome characterized by moderate to severe intellectual disability, dysmorphic facial features, speech impairment, genital anomalies and skin abnormalities. The syndrome is caused by mutations of the UBE2A gene, or larger deletions of Xq24 encompassing UBE2A. Methods We report the case of a 19-year-old male with UBE2A deficiency syndrome, who showed severe intellectual disability and seizures. Whole exome sequencing and Sanger sequencing were used to identify the disease-causing mutations in this patient. Results A novel hemizygous missense UBE2A mutation (c.TAT245TGT, p.Tyr82Cys) was identified in our patient. The heterozygous missense UBE2A mutation was identified in his mother, although not in his father or sister. Conclusions The present study identified a novel UBE2A mutation in a patient with severe intellectual disability and seizures. Our findings expand the mutational spectrum of the UBE2A gene.
基金：
Fundamental Research Funds for the Central Universities, HUST [2019JYCXJJ035]; National Natural Science Foundation of China [81000079, 81170165, 81870959]; Program for HUST Academic Frontier Youth Team [2016QYTD02]
语种：
外文
被引次数：
WOS：
PubmedID：
中科院(CAS)分区：
出版当年[2019]版：
大类|4 区医学
小类|4 区生物工程与应用微生物4 区遗传学4 区医学：研究与实验
最新[2025]版：
大类|4 区医学
小类|3 区生物工程与应用微生物4 区遗传学4 区医学：研究与实验
JCR分区：
出版当年[2018]版：
Q4GENETICS & HEREDITYQ4BIOTECHNOLOGY & APPLIED MICROBIOLOGYQ4MEDICINE, RESEARCH & EXPERIMENTAL
最新[2023]版：
Q2BIOTECHNOLOGY & APPLIED MICROBIOLOGYQ2GENETICS & HEREDITYQ2MEDICINE, RESEARCH & EXPERIMENTAL
第一作者单位：[1]Huazhong Univ Sci & Technol, Minist Educ, Key Lab Mol Biophys, Coll Life Sci & Technol, Wuhan, Hubei, Peoples R China[2]Huazhong Univ Sci & Technol, Ctr Human Genome Res, Wuhan, Hubei, Peoples R China
通讯作者：
通讯机构：[1]Huazhong Univ Sci & Technol, Minist Educ, Key Lab Mol Biophys, Coll Life Sci & Technol, Wuhan, Hubei, Peoples R China[2]Huazhong Univ Sci & Technol, Ctr Human Genome Res, Wuhan, Hubei, Peoples R China[*1]Huazhong Univ Sci & Technol, Coll Life Sci & Technol, 1037 Luoyu Rd, Wuhan, Peoples R China
推荐引用方式(GB/T 7714)：
Jia Weimin,Hu Qi,Wu Yanling,et al.A novel UBE2A mutation in a Chinese family with X-linked intellectual disability[J].JOURNAL OF GENE MEDICINE.2020,22(8):doi:10.1002/jgm.3191.
APA：
Jia, Weimin,Hu, Qi,Wu, Yanling,Wang, Jiarui,Liu, Zhenxing&Zhang, Xianqin.(2020).A novel UBE2A mutation in a Chinese family with X-linked intellectual disability.JOURNAL OF GENE MEDICINE,22,(8)
MLA：
Jia, Weimin,et al."A novel UBE2A mutation in a Chinese family with X-linked intellectual disability".JOURNAL OF GENE MEDICINE 22..8(2020)
