Open AccessA novel UBE2A splice site variant causing intellectual disability type Nascimento
Author(s) -
Yan Shuyuan,
Wang Yanling,
Chen Ying,
Yuan Hongxia,
Kuang Xiaoni,
Hou Da,
Li Xueyi,
Pan Linglin,
Huang Guangwen,
He Jun,
Wang Tuanmei,
Peng Xiangwen
Publication year - 2022
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.5990
Subject(s) - intellectual disability , medicine , exome sequencing , splice , genetics , hearing loss , splice site mutation , phenotype , rna splicing , gene , audiology , biology , psychiatry , rna
Abstract X‐linked intellectual disability type Nascimento (XLID) is a rare disease caused by variants in the ubiquitin‐conjugating enzyme E2A gene (UBE2A). Patients with XLID have similar phenotypes, including speech impairments, severe intellectual disability, hearing loss, wide facies, synophrys, generalized hirsutism, and urogenital abnormalities. Till date, only two splice‐site variants of the UBE2A gene have been observed in patients with X‐linked ID type Nascimento. Here, we report the case of a Chinese boy with a syndrome clinically similar to XLID with speech impairment, severe intellectual disability, and moderate hearing loss. However, different characteristics were also present in the patient, including an inability to maintain his head in an upright posture. Both of the patient's palms have a single transverse palmar crease. Subsequent whole‐exome sequencing revealed a novel splice site variant in UBE2A (c.241 + 1 G > A). Our study not only expands the variant spectrum and clinical characteristics of UBE2A deficiency syndrome but also provides clinical evidence for genetic diagnoses.