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,,():1042-1046.[doi:10.3760/cma.j.cn101785-202408046-009]
Association study between clinical features and genotypes in children with Beckwith-Wiedemann syndrome
- Keywords:
- Macroglossia; Gene; Heredity; Surgical Procedures; Operative; Child
- 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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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