FLNA基因突变导致新生儿耳-腭-指综合征1型1例报告  

A case report of neonatal otopalatodigital syndrome type 1 caused by FLNA gene mutation

作　　者：朱如琴 胡晓艳[2] ZHU Ruqin;HU Xiaoyan(The Fifth Clinical Medical College of Anhui Medical University,Anhui,Hefei 230000,China;Peking University,Shenzhen Hospital,Shenzhen,Guangdong 518036,China)

机构地区：[1]安徽医科大学第五临床医学院,安徽合肥230000 [2]北京大学深圳医院,广东深圳518036

出　　处：《中国优生与遗传杂志》2024年第3期568-571,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的 探讨FLNA基因突变导致新生儿耳-腭-指综合征(OPDS)患儿的遗传学特征及临床特征,为临床诊治提供参考。方法 报告1例耳-腭-指综合征患儿的临床表现、实验室及影像学检查、基因突变检测,并进行相关文献复习。结果 患儿女,足月新生儿,生后发现腭裂(Ⅱ度),面容表现为眼距宽,下颌小,双足第2趾较长。基因检查提示患儿FLNA基因发现一处杂合变异:c.514C>G(p.L172V),家系验证结果显示其父母此位点无变异。结论 该例患儿诊断为耳-腭-指综合征明确,出现明显指趾异常及特征面容,通过总结临床及实验室检查特点,加强临床医生对本病的认识,以及探讨如何在新生儿期甚至在产前诊断中提高对本病的早期诊断准确率,同时随访该病患儿的远期预后情况。Objective To investigate the genetic and clinical characteristics of neonates with otopalatodigital syndrome(OPDS)caused by FLNA gene mutation,so as to provide reference for clinical diagnosis and treatment.Methods The clinical manifestations,laboratory and imaging examinations,and gene mutation detection of a child with otopalatodigital syndrome were reported,and the related literature was reviewed.Results A full-term female newborn was found to have cleft palate(degreeⅡ).The facial features were wide eye distance and small mandible.And the second toes of both feet were relatively large.Genetic examination showed that a heterozygous mutation was found in FLNA gene of the child:c.514C˃G(p.L172V),the result of pedigree verification showed that there was no variation in this locus in her parents.Conclusion The diagnosis of this case is clear,with obvious toe abnormalities and characteristic facial features.By summarizing the clinical and laboratory examination characteristics,we can strengthen the clinicians’understanding of this disease and discuss how to improve the accuracy of early diagnosis of this disease in neonatal and even in prenatal diagnosis,and follow up the long-term prognosis of the children with this disease.

关 键 词：耳-腭-指综合征 新生儿 腭裂 FLNA基因 

分 类 号：R722.1[医药卫生—儿科]