Xiao Xiaolan,Wu Xiaohui,Zeng Suqin,et al.Association study between clinical features and genotypes in children with Beckwith-Wiedemann syndrome[J].Journal of Clinical Pediatric Surgery,2025,(11):1042-1046.[doi:10.3760/cma.j.cn101785-202408046-009]
贝克威思-威德曼综合征患儿临床特征与基因分型的关联性研究
- Title:
- Association study between clinical features and genotypes in children with Beckwith-Wiedemann syndrome
- Keywords:
- Macroglossia; Gene; Heredity; Surgical Procedures; Operative; Child
- 摘要:
- 目的 分析接受巨舌缩小手术的贝克威思-威德曼综合征(Beckwith-Wiedemann syndrome,BWS)患儿的4种基因分型与临床特征的关联性。方法 回顾性分析2019年1月至2023年12月在厦门市儿童医院耳鼻咽喉头颈外科接受巨舌缩小手术治疗的83例BWS患儿临床资料。收集患儿临床特征(脐膨出、面部火焰斑、隐睾、智力发育、心脏疾病、内脏异常)的发生率及基因分型比例,分析4种基因分型与临床特征是否存在关联性。结果 本研究纳入的83例BWS患儿中,脐膨出发生率最高,为71.08%(59/83);其后依次为巨大儿、偏侧增生、火焰斑、内脏肥大,发生率分别为68.67%(57/83)、57.83%(48/83)、46.99%(39/83)、39.76%(33/83)。分子诊断明确者49例,其中46例分子诊断阳性,阳性率为(93.88%,46/49),3例分子诊断阴性(6.12%,3/49)。基因分型结果显示, IC2型最常见,占分子诊断阳性者的52.18%(24/46);其次是 IC1型,占34.78%(16/46)。IC1、IC2、pUPD及 CDKN1C 4种基因分型与临床特征之间的关联性分析结果显示,临床特征中的脐膨出、智力发育迟缓与基因分型存在关联(P<0.05)。结论 BWS患者基因分型以 IC2和IC1型为主,其基因分型可能影响特定临床表现,能为个体化诊疗提供依据。需要更进一步的研究验证基因分型-表型的关联及其机制。
- Abstract:
- Objective To explore the association between four genotypes and clinical features in children with Beckwith-Wiedemann syndrome (BWS) undergoing macroglossia reduction surgery. Methods A retrospective analysis was conducted on the clinical data of 83 BWS children undergoing macroglossia reduction surgery at Department of Otorhinolaryngology-Head and Neck Surgery of Xiamen Children’s Hospital from January 2019 to December 2023.The incidence of clinical features (e.g.omphalocele,facial flame nevus,cryptorchidism,intellectual development,heart disease & visceral abnormalities) and the proportion of genotypes were analyzed.Fisher’s exact test was utilized for examining whether or not there was an association between four genotypes and clinical features. Results Among them,omphalocele had the highest incidence of 71.08%(59/83).It was followed by macrosomia,hemihypertrophy,flame nevus and visceral hypertrophy with an incidence of 68.67% (57/83),57.83%(48/83),46.99%(39/83) and 39.76%(33/83) respectively.Molecular diagnosis was confirmative (n=49) with a positive rate of 93.88%(46/49) and 3 cases were molecular diagnosis-negative[6.12%(3/49)].Genotyping results revealed that IC2 type dominated with a molecular diagnosis-positive rate of 52.18%(24/46).And IC1 type accounted for 34.78%(16/46).The association analysis of four genotypes (IC1,IC2,pUPD & CDKN1C) and clinical features indicated that omphalocele and intellectual disability were associated with genotypes (P<0.05). Conclusions The predominant genotypes of BWS children are IC2 and IC1.And genotypes may affect specific clinical manifestations and thus provide rationales for individualized diagnosis and treatment.Further studies are needed to verify the genotype-phenotype association and elucidate its mechanism.
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备注/Memo
收稿日期:2024-8-30。
基金项目:厦门市自然科学基金项目(3502Z20227300)
通讯作者:高兴强,Email:gaoxqxm@163.com