文献类型：期刊文献

英文题名：Novel de novo mutation in ZBTB20 in a Chinese Primrose syndrome family and a review of the literature

作者：Li, Jiayi[1,2];Zhang, Chuan[2];Tian, Xinyuan[2];Zhou, Bingbo[2];Chen, Xue[2];Wang, Yupei[2];Hao, Shengju[2];Hui, Ling[1,2,3,4];Meng, Zhaoyan[1,3,4]

第一作者：Li, Jiayi;李佳忆

通信作者：Hui, L[1];Meng, ZY[1]

机构：[1]Gansu Univ Chinese Med, Sch Clin Med 1, Lanzhou, Peoples R China;[2]Gansu Prov Matern & Child Hlth Care Hosp, Med Genet Ctr, Gansu Prov Clin Res Ctr Birth Defects & Rare Dis, Lanzhou, Peoples R China;[3]Gansu Prov Matern & Child Hlth Care Hosp, Dept Obstet, Lanzhou, Peoples R China;[4]Gansu Univ Chinese Med, Clin Sch 1, Lanzhou 730050, Peoples R China

第一机构：甘肃中医药大学

通信机构：[1]corresponding author), Gansu Univ Chinese Med, Clin Sch 1, Lanzhou 730050, Peoples R China.|[10735]甘肃中医药大学;

年份：2024

卷号：12

期号：1

外文期刊名：MOLECULAR GENETICS & GENOMIC MEDICINE

收录：;WOS:【SCI-EXPANDED(收录号:WOS:001124787500001)】；

基金：The authors are grateful to the patients and the pedigree members who participated in this study.

语种：英文

外文关键词：functional analyses; Primrose syndrome; variant spectrum; whole-exome sequencing; ZBTB20

摘要：Background: Primrose syndrome is an autosomal dominant disorder characterized by craniofacial dysmorphism, mental retardation, developmental delay, progressive muscle atrophy and calcification of the earlobe due to a mutation in the ZBTB20.Method: We reported a case of a Chinese boy with clinical symptoms resembling Primrose Syndrome, and performed genetic etiology analysis of the proband's family through Trio whole exome sequencing.Result: A novel missense variant c.1927T>A(p.F643I) in exon 14 of the ZBTB20 (NM_001348803) was identified in the proband. This is the first report case of primrose syndrome in China, and our case extends the variant spectrum of ZBTB20 and further strengthens the understanding of primrose syndrome.Conclusion: However, there are no formal clinical guidelines for the management of this disease, and research on treatment and prognosis remains a challenge and focus in future.