Clinical and genetic characteristics of congenital contractural arachnodactyly

CHEN Dan; TIAN Wen; WANG Shu-feng; SUN Li-ying; ZHONG Wen-yao; GUO Yang; HUANG Zhi-feng; ZHAO Zong-xuan; LI Qing-yang; ZHANG Nan

doi:10.3969/j.issn.2095-252X.2024.04.012

Abstract：Objective To investigate the clinical features,genetic characteristics,and genotype-phenotype correlations of congenital contractural arachnodactyly(CCA).Methods Sixteen patients(8 males and 8 females)with a clinical diagnosis of CCA and a mutation of gene FBN2,with a mean age of 5 years,were enrolled in this research.A retrospective study was conducted to review the previous patient information,clinical data,photographs,examination results,and second-generation sequencing test results,and to analyze and summarize the clinical features,genetic characteristics,and genotype-phenotype correlations.Results Of these 16 patients,all had arachnodactyly(16/16,100%)and multiple joint contractures of the hands(16/16,100%),11 had large joint contractures(11/15,73.3%),14 had muscle hypoplasia(14/16,87.5%),5 had kyphosis/scoliosis(5/14,35.7%),6 had pectus deformity(6/15,40.0%),16 had crumpled ears(16/16,100%),9 had micrognathia(9/16,56.3%),and 7 had highly arched palate(7/11,63.6%).Thirteen different kinds of mutations in gene FBN2 were identified in 16 patients,with 12 missense mutations located in exons and 1 mutation in introns.The mutations c.2831G>A and c.5200+5G>A were new mutations not reported before.In addition,this study found that patients with mutations in exons 26-29 are more likely to have large joint contractures and spinal deformities.Conclusions This study summarizes the clinical manifestations of 16 CCA patients and identifies 2 unreported mutations,and patients with mutations in exons 26-29 were more likely to have large joint contractures and spinal deformities.