Clinical characteristics and genetic analysis of a patient with microcephaly-capillary malformation syndrome due to a STAMBP mutation
10.3760/cma.j.cn113694-20231212-00375
- VernacularTitle:STAMBP基因突变所致小头畸形-毛细血管畸形综合征的临床及遗传学分析
- Author:
Zhenzhen CUI
1
;
Bin YANG
;
De WU
;
Danqun JIN
;
Li LIN
Author Information
1. 安徽省儿童医院儿童神经科，合肥 230022
- Keywords:
STAMBP gene;
Microcephaly-capillary malformation;
Refractory epilepsy;
Developmental delay
- From:
Chinese Journal of Neurology
2024;57(9):1009-1015
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical and genetic characteristics of a child with microcephaly-capillary malformation syndrome due to a STAMBP mutation. Methods:The clinical data of a case of microcephaly-capillary malformation syndrome caused by STAMBP gene mutation admitted to Anhui Children′s Hospital in August 2023 were collected. The genes of the child and his parents were detected by whole exome sequencing, and the risk was predicted by biological software. At the same time, the clinical characteristics of the child were analyzed and the literature was reviewed. Results:The patient is a male child aged 2 years and 7 months. The patient had special features, microcephaly, refractory epilepsy, severe comprehensive developmental delay, and capillary malformations. The results of genetic testing showed that the STAMBP gene in the child had complex heterozygous mutations NM_001353967: c.367delG[p.E123fs *27(p.Glu123fsTer27) and c.159A>C(p.Glu53Asp)], inherited from his mother and father respectively. The mutations have not been recorded in the HGMD, dbSNP and gnomAD databases,etc. The protein structure of the STAMBP gene was modeled that predicted c.367del(p.Glu123Lysfs *27) and c.159A>C (p.Glu53Asp) had a negative effect on the function of STAMBP protein. Conclusion:The STAMBP gene complex heterozygous mutations c.367delG(p.Glu123fsTer27) and c.159A>C(p.Glu53Asp) may be the pathogenic factor of this child, which further expands the variation spectrum of the STAMBP gene and the genotype of microcephaly-capillary malformation syndrome, and provides guidance for family genetic counseling.
