Genotype and phenotype analysis of Coffin-Siris syndrome type 6 caused by novel variant of ARID2: one case report and literature review
10.3760/cma.j.cn311282-20201222-00844
- VernacularTitle:一例ARID2新发变异所致Coffin-Siris综合征6型的基因型及表型分析并文献复习
- Author:
Rui WU
1
;
Shuxiang LI
;
Liting WU
;
Cui SONG
Author Information
1. 重庆医科大学附属儿童医院内分泌遗传代谢科；儿童发育疾病研究教育部重点实验室；国家儿童健康与疾病临床医学研究中心；儿科学重庆市重点实验室 400014
- Keywords:
Coffin-Siris syndrome;
Vaginal bleeding;
ARID2 gene
- From:
Chinese Journal of Endocrinology and Metabolism
2021;37(10):881-887
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To improve understanding of autosomal dominant Coffin-Siris syndrome(CSS) caused by ARID2 variant via analyzing the clinical manifestations and genetic characteristics of this rare disease. Methods:Whole-exome sequencing was performed in a patient with CSS and her parents in Children′s Hospital of Chongqing Medical University, and genotype and phenotype were further analyzed.Results:The 2-month-old girl was admitted to hospital due to repeated vomiting for more than a month and one-time vaginal bleeding. She presented with severe malnutrition, special facial features, premature development of bilateral breasts, hymen protrusion, and vaginal bleeding. Gene sequencing revealed a de novo heterozygous frameshift mutation(c.1919delC, p. P640Lfs*7) in ARID2 gene, and no variant identified with her parents. It has been reported that the clinical manifestations of CSS caused by ARID2 variant are heterogeneous varing, mainly characterized by growth retardation, mental retardation, and feeding difficulties, accompanied by skeletal deformities, behavioral abnormalities, and visual impairment. Endocrine abnormalities are seldomly reported.Conclusion:For patients presenting growth retardation, special facial features, feeding difficulties, and unexplained vaginal bleeding, rare genetic syndrome should be considered and genetic testing be carried out. This is a novel variant(c.1919delC, p.P640Lfs*7) in ARID2.
