Identifying a novel SRCAP variant in floating-harbor syndrome and prenatal genetic diagnosis in this Chinese family:A case report  

作　　者：Xiao Xiao Ping Wang He Wang Han-Bing Xie Shan-Ling Liu 

机构地区：[1]Department of Medical Genetics/Prenatal Diagnostic Center,West China Second University Hospital,Sichuan University,Chengdu 610041,Sichuan Province,China [2]Key Laboratory of Birth Defects and Related Diseases of Women and Children(Sichuan University),Ministry of Education,Chengdu 610041,Sichuan Province,China

出　　处：《World Journal of Clinical Cases》2025年第20期49-56,共8页世界临床病例杂志(英文)

基　　金：Supported by National Key Research and Development Program of China,No.2022YFC2703302.

摘　　要：BACKGROUND Floating-harbor syndrome(FHS)is a rare genetic disorder caused by pathogenic variants in the SRCAP gene.Most individuals with FHS have short stature,delayed speech and language development,and dysmorphic facial features.However,the patients with FHS are not easy to diagnose due to the overlap of clinical phenotypes with other disorders.CASE SUMMARY We reported a 10-year-old boy who presented with severe short stature,developmental delay and distinctive facial features.Exome sequencing was provided for the proband and his parents.We identified a novel frameshift variant c.7235delinsGT(p.Thr2412fs)in SRCAP gene,and the variant was further validated by Sanger sequencing.The mother of the proband was referred to us for prenatal consultation during next pregnancy.We performed prenatal genetic diagnosis for the fetus.The result of Sanger sequencing for c.7235delinsGT(p.Thr2412fs)in SRCAP gene showed that the fetus did not carry the variant,so the fetus has been born successfully.The newborn does not show any similar symptom to the proband till one month.CONCLUSION This case confirms that the c.7235delinsGT(p.Thr2412fs)variant in the SRCAP gene is associated with FHS and expands the spectrum of SRCAP variants.

关 键 词：Floating-harbor syndrome SRCAP gene Exome sequencing Prenatal genetic diagnosis Sanger sequencing Case report 

分 类 号：R714.5[医药卫生—妇产科学]