A case of Bainbridge-Ropers syndrome with autism in conjunct with ASXL3 gene variant and its clinical analysis.
10.3760/cma.j.cn511374-20200901-00642
- Author:
Shuhong ZHENG
1
;
Hairui CHEN
;
Miaojun MO
Author Information
1. Wenling Maternal and Child Health Care Hospital, Wenling, Zhejiang 317500, China. zshuhong78@126.com.
- Publication Type:Journal Article
- MeSH:
Autistic Disorder/genetics*;
Child;
Developmental Disabilities;
Female;
Humans;
Mutation;
Retrospective Studies;
Syndrome;
Transcription Factors/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(7):671-673
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To retrospectively analyze the clinical phenotype and genetic characteristics of a child with severe mental retardation, language and motor development delays and autism.
METHODS:High-throughput sequencing was carried out for the patient. Candidate variant was verified by Sanger sequencing and bioinformatics analysis.
RESULTS:The child was found to harbor a heterozygous variant of exon 11:c.1421_1422insTGAATTTTCTGAGGAGGCTGAAAGT(p.Leu483*) of the ASXL3 gene. The same variant was found in neither of her parents, suggesting that it has a de novo origin.
CONCLUSION:The exon 11:c.1421_1422ins TGAATTTTCTGAGGAGGCTGAAAGT(p.Leu483*) variant of the ASXL3 gene probably underlay the pathogenesis of Bainbridge-Ropers syndrome in this patient. Above finding has enriched the spectrum of ASXL3 gene variants.
