Genetic analysis of a child with Dias-Logan syndrome due to variant of BCL11A gene
10.3760/cma.j.cn511374-20221209-00855
- VernacularTitle:BCL11A基因变异所致Dias-Logan综合征1例患儿的遗传学分析
- Author:
Linfei LI
1
;
Shuying LUO
;
Yaodong ZHANG
;
Qing SHANG
;
Wancun ZHANG
;
Lei LIU
;
Xiaoman ZHANG
;
Shiyue MEI
Author Information
1. 郑州大学附属儿童医院 河南省儿童医院 郑州儿童医院 河南省儿童遗传代谢性疾病重点实验室，郑州 450018
- Keywords:
Dias-Logan syndrome;
BCL11A gene;
De novo variant
- From:
Chinese Journal of Medical Genetics
2024;41(9):1096-1099
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To analyze the clinical and genetic characteristics of a child featuring Dias-Logan syndrome.Methods:A child with speech disorders and delayed psychomotor development from childhood who was admitted to the Rehabilitation Medicine Department of Children′s Hospital Affiliated to Zhengzhou University in July 2022 was selected as the research subject. Clinical data of the child was collected. Genomic DNA was extracted from peripheral blood samples of the child and his parents. Potential variant was screened by whole exome sequencing, and candidate variant was verified by Sanger sequencing. This study was approved by the Children′s Hospital Affiliated to Zhengzhou University (Ethics No. 2023-K-011).Results:The child has presented with global developmental delay, microcephaly, special facial features and behavioral problems. Genetic testing revealed a de novo variant of the BCL11A gene, namely c. 561_567delACACGCA(p.Q187fs*7), which was classified as pathogenic (PVS1+ PS2+ PM2_Supporting). Conclusion:The heterozygous variant of BCL11A gene probably underlay the Dias-Logan syndrome in this child. Above finding has enriched the phenotypic and mutational spectrum of the BCL11A gene and provides a basis for genetic counseling and clinical decision-making.
