Clinical characteristics and genetic analysis of a family with neurodevelopmental syndrome caused by the SPTBN1 gene mutation
10.3760/cma.j.cn101070-20240316-00158
- VernacularTitle:SPTBN1基因突变致神经发育综合征一家系的临床特征与遗传学分析
- Author:
Huimin ZHAO
1
;
Jianjun TANG
;
Linze JIANG
;
Kaili SHI
Author Information
1. 成都医学院附属第三医院郫都区人民医院儿科，成都 611730
- Keywords:
SPTBN1 gene;
Genetic disease;
Neurodevelopmental syndrome;
Pedigree
- From:
Chinese Journal of Applied Clinical Pediatrics
2024;39(11):866-868
- CountryChina
- Language:Chinese
-
Abstract:
The clinical and genetic characteristics of the family reported with neurodevelopmental syndrome caused by the SPTBN1 gene mutation were analyzed for clinical diagnosis.The proband was a boy, 2 years and 3 months old, admitted to the Department of Neurology, Guangzhou Women and Children′s Medical Center in June 2022 with comprehensive developmental delays as the main manifestation.The boy was backward in development since childhood.He was able to raise his head at the age of 3 months and sit alone at the age of 11 months.He could stand up with support but was unable to climb.He occasionally spoke polysyllabic words.The proband′s elder brother, 3 years and 1 month old, was able to walk at the age of 1 year and 6 months, and could speak " Mom and Dad" consciously and understand some instructions.He liked to play with other children.The mother of the proband was mentally retarded, while the father and grandparents of the proband had no symptoms.The proband was found to have a heterozygous mutation of the SPTBN1 gene (NM_003128.3), c.811G>A (p.Val271Met).The proband′s mother and elder brother also had a heterozygous mutation, which, however, was not detected in the proband′s father.The neurodevelopmental syndrome caused by the SPTBN1 gene mutation is rare in China, which can be manifested as language and motor delays and intellectual disabilities from early childhood, and individuals with the same genetic variation show different clinical phenotypes.
