Tie Xiaoling, Yang Ying, He Chunxia, Zhang Liyu, Che Fengyu
Department of Rehabilitation, Xi'an Children's Hospital, Xi'an, Shaanxi 710003, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Aug 10;39(8):836-841. doi: 10.3760/cma.j.cn511374-20210702-00561.
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.
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.
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.Pro1033Thrfs2) 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.
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.
