Duan Fuhua, Zhai Yiwen, Kong Xiangdong
Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Mar 10;38(3):275-277. doi: 10.3760/cma.j.cn511374-20200219-00089.
To explore the genetic basis for a child affected with Bainbridge-Ropers syndrome.
Genomic DNA was extracted from peripheral venous blood samples from the patient and his parents. Whole exome sequencing (WES) was carried out to detect genetic variant of the proband. Candidate variant was verified by Sanger sequencing.
The 3-year-old boy presented with psychomotor retardation, linguistic difficulties, mental retardation and peculiar craniofacial phenotype. A de novo heterozygous nonsense variant of the ASXL3 gene, c.3106C>T, was identified by WES in the proband, and the same mutation was not found among his parents. Based on the American College of Medical Genetics and Genomics standards and guidelines, the c.3106C>T variant was predicted to be pathogenic (PVS1+PS2+PP4).
The heterozygous variant c.3106C>T of the ASXL3 gene probably underlies the Bainbridge-Ropers syndrome in the patient. Above result has enabled the clinical diagnosis and genetic counseling for the family.
探究一名患有班布里奇 - 罗佩斯综合征患儿的遗传基础。
从患者及其父母的外周静脉血样本中提取基因组DNA。进行全外显子组测序（WES）以检测先证者的基因变异。候选变异通过桑格测序进行验证。
该3岁男孩表现为精神运动发育迟缓、语言困难、智力障碍和特殊的颅面表型。通过WES在先证者中鉴定出ASXL3基因的一个新生杂合无义变异，c.3106C>T，其父母中未发现相同突变。根据美国医学遗传学与基因组学学会的标准和指南，预测c.3106C>T变异为致病性变异（PVS1+PS2+PP4）。
ASXL3基因的杂合变异c.3106C>T可能是该患者患班布里奇 - 罗佩斯综合征的病因。上述结果为该家庭的临床诊断和遗传咨询提供了依据。
