Genotype and phenotype analysis of Coffin-Siris syndrome type 6 caused by novel variant of ARID2: one case report and literature review / 中华内分泌代谢杂志

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.