Analysis of clinical feature and genetic variants in two Chinese pedigrees affected with Bainbridge-Ropers syndrome.
10.3760/cma.j.cn511374-20210702-00561
- VernacularTitle:两个Bainbridge-Ropers综合征家系的临床表型及基因变异分析
- Author:
Xiaoling TIE
1
,
2
;
Ying YANG
;
Chunxia HE
;
Liyu ZHANG
;
Fengyu CHE
Author Information
1. Department of Rehabilitation, Xi'an Children's Hospital, Xi'an, Shaanxi 710003, China. 0612024061@
2. com.
- Publication Type:Journal Article
- MeSH:
Child;
China;
Developmental Disabilities/genetics*;
Humans;
Language;
Mutation;
Pedigree;
Phenotype;
Transcription Factors/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(8):836-841
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical features and genetic variants in two unrelated patients with psychomotor retardation and facial abnormalities, and to explore their genotype-phenotype correlation.
METHODS:Clinical data and family history of the two pedigrees were collected. Whole exome sequencing (WES) and Sanger sequencing were carried out to detect the potential variants.
RESULTS:Both patients had presented with mental and language retardation, along with growth delay and facial anomalies. They were both found to harbor de novo loss-of-function variants in exon 12 of the ASXL3 gene, namely c.3096dup (p.Pro1033Thrfs*2) and c.3253G>T (p.Gly1085*). Neither variant was reported previously. Combined with their clinical features and genetic finding, both patients were diagnosed with Bainbridge-Ropes syndrome due to pathogenic variants of the ASXL3 gene.
CONCLUSION:Diagnosis of Bainbridge Ropes syndrome in the two pedigrees has enriched the genotypic and phenotypic spectrum of this disorder and enabled genetic counseling for them.
