NUDT2 gene induced intellectual disability with or without peripheral neuropathy: a case report and literature review
10.3760/cma.j.cn101721-20231108-00131
- VernacularTitle:NUDT2基因致智力障碍伴或不伴周围神经病1例并文献复习
- Author:
Weihang MU
1
;
Peng ZHAO
;
Qianqian SHENG
;
Lin YUAN
Author Information
1. 天津市儿童医院 天津大学儿童医院 天津市儿童出生缺陷防治重点实验室康复医学科，300134 天津
- Keywords:
Intellectual disability;
Peripheral nerve damage;
Nucleoside diphosphate linked moiety X-type motif 2;
Homozygous mutation
- From:
Clinical Medicine of China
2024;40(2):104-108
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize the clinical characteristics and pathogenic mutation of gene NUDT2 in the child with intellectual disability with or without peripheral neuropathy (IDDPN). Methods:The clinical characteristics and development of one child attending the Department of Rehabilitation of Tianjin Children's Hospital were evaluated retrospectively,and the relationship between the clinical phenotype and gene mutation profile of NUDT2 was analyzed. Results:The child had global developmental delay, special appearance, low muscle tone of the limbs, accompanied by peripheral nerve damage in the limbs, and whole exome sequencing found that the child carried a homozygous mutation of NUDT2 gene, c.34C>T (p.R12X), which was a nonsense mutation. Sanger verified that both parents were carriers of c.34C>T heterozygous mutations. In the inclusion of 10 registered IDDPN patients, it was found that all of them were homozygous mutations, and the clinical phenotypes all had different degrees of cognitive impairment and movement disorders, among which only 3 cases were complicated by peripheral nerve damage. Conclusions:The child in this case had low birth weight/length, weak sucking ability in infancy, cognitive impairment, peripheral nerve damage, and genetic testing showed homozygous nonsense mutation of NUDT2 gene, which provided evidence support for the clinical understanding of the disease.
