Genetic analysis of an autosomal recessive intellectual impairment 38 type family caused by HERC2 gene mutation
10.3760/cma.j.cn113661-20230925-00093
- VernacularTitle:HERC2基因变异所致常染色体隐性遗传智力障碍38型一家系的遗传学分析
- Author:
Jianglei MA
1
;
Yuanyuan ZHANG
;
Fuhui DUAN
;
Guangming WANG
Author Information
1. 大理大学第一附属医院基因检测中心，大理 671000
- Publication Type:Journal Article
- Keywords:
Intellectual disability;
Developmental disabilities;
Whole exome sequencing;
HERC2 gene;
Gene mutation
- From:
Chinese Journal of Psychiatry
2024;57(6):345-350
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic characteristics of a family with intellectual impairment and developmental delay caused by HERC2 gene mutation. Methods:A total of 10 individuals from a 3-generation family of a child with intellectual disability and developmental delay who was treated at the First Affiliated Hospital of Dali University from May to July 2020 were recruited. Clinical data of probands from the family and the illness status of family members were collected. Whole exome sequencing technology was used to screen for pathogenic genes in probands, meanwhile, Sanger sequencing was conducted to verify the family of suspected pathogenic genes. According to the American College of Medical Genetics and Genomics (ACMG) genetic variation interpretation standards and guidelines, pathogenicity classification of suspected pathogenic gene mutation sites was performed.Results:The patient, male, 12-year old, presented with the clinical characteristics of "developmental delay for 9 years and intellectual disability for 3 months". The patient was characterized by a short stature, spontaneous laughter and avoidance of the surrounding environment. One younger brother has symptoms similar to intellectual impairment with developmental delay, while the remaining family members are normal. The Wechsler Intelligence Test of the child indicates a low level of intelligence. The whole exome sequencing results showed that the proband carried a homozygous mutation at the c.7675A>G site of the HERC2 gene, while Sanger sequencing showed that the younger brother carried the same homozygous mutation at the c.7675A>G site of the HERC2 gene. The other family members carried the same heterozygous mutation at the c.7675A>G site of the HERC2 gene. According to the ACMG guidelines, the mutation at this gene site is clinically unclear. Conclusion:The mutation at the c.7675A>G locus of HERC2 gene is the genetic basis of mental retardation with stunting in this family.
