摘要
目的 明确2个非综合征性耳聋家系的致病基因,揭示疾病发生机制,为家系遗传咨询提供依据。方法选取2020年3月—2021年12月在河南省人民医院遗传咨询门诊就诊的2个耳聋家系29例患者的临床资料,包括临床表现、听力学检查等,绘制遗传图谱。从2个家系先证者及相关成员的外周静脉血,进行高通量测序及Sanger测序验证。对检测到的基因突变进行致病性分析。结果 测序结果显示,家系1先证者OSBPL2基因存在首次报道的c. 564_565 ins G突变;家系2先证者POU3F4基因存在首次报道的c. 520G>T突变。根据美国医学遗传学与基因组学学会指南诊断标准,突变位点均为致病性,且符合基因型-表型共分离现象。结论 基因检测结果为上述两个家系的遗传咨询提供了有力依据,首次报道的突变丰富了人类耳聋基因突变数据库。家系1检测结果可作为OSBPL2基因与耳聋发生相关的临床证据之一。
Objective To confirm the mechanism of the disease in two families with non-syndromic deafness.Genetic counseling was carried out on this basis.Methods Collect clinical data of 29 patients from 2 deaf families who visited the Genetic Counseling Clinic of Henan Provincial People's Hospital from March 2020 to December 2021.DNA was extracted from the peripheral blood of probands and related members for high-throughput sequencing and Sanger sequencing.Pathogenicity analysis was performed on the detected gene mutations.Results The first reported OSBPL2 c.564_565 insG mutation was found in family 1,and the first reported POU3F4 c.520G>T mutation was identified in family 2.According to the diagnostic criteria of the American College of Medical Genetics and Genomics(ACMG)guidelines,all the above mutations are pathogenic mutations and conform to genotypephenotype co-segregation.Conclusion The results of genetic testing provide a strong basis for genetic counseling.These first reported mutations enriched the human deafness gene mutation database.The results of family 1 can be used as one of the clinical evidences that OSBPL2 gene is associated with the development of deafness.
作者
王莉
任增果
杨科
秦利涛
娄桂予
郭谦楠
张冰
霍晓东
廖世秀
刘宏建
WANG Li;REN Zengguo;YANG Ke;QIN Litao;LOU Guiyu;GUO Qiannan;ZHANG Bing;HUO Xiaodong;LIAO Shixiu;LIU Hongjian(Institute of Medical Genetics,Henan Provincial People’s Hospital,People’s Hospital of Zhengzhou University,People's Hospital of Henan University,Zhengzhou 450003,China;不详)
出处
《中华耳科学杂志》
CSCD
北大核心
2024年第2期183-187,共5页
Chinese Journal of Otology
基金
河南省医学科技项目(2018020388)。
