一个并多指(趾)畸形家系HOXD13基因突变分析  

The mutation analysis of HOXD13 gene in a pedigree with synpolydactyly

作　　者：黄丽娟[1] 刘照亮[1] 王彪[1] 林碧芳[1] Huang Lijuan;Liu Zhaoliang;Wang Biao;Lin Bifang(Department of Plastic Surgery,the First Affiliated Hospital of Fujian Medical University,Fuzhou 350005,China)

机构地区：[1]福建医科大学附属第一医院整形外科,福州350005

出　　处：《中华整形外科杂志》2021年第9期976-980,共5页Chinese Journal of Plastic Surgery

摘　　要：目的对1个并多指(趾)畸形家系中同源盒D13(HOXD13)基因进行分析,探讨该家系中HOXD13基因的突变情况。方法收集2013年8月就诊于福建医科大学附属第一医院的1个并多指(趾)畸形家系的资料,依据家族史、临床体征和手足X线检查进行临床诊断;采集家系中部分成员的外周血标本,提取基因组DNA,采用聚合酶链反应、DNA序列分析法对HOXD13基因进行鉴定分析。结果该家系4代35人,其中患病者12例,男5例,女7例,先证者为1例20岁女性患者,手部均表现为双侧第3、4指并指伴屈曲畸形,不能伸直,其余手指活动自如;足部表现为单侧或双侧第4、5趾并趾伴软组织蹼内多趾,符合典型的常染色体显性并多指(趾)畸形的表型特征。对家系中19人(正常成员12例、患病者7例)HOXD13基因的分析结果显示:12例正常成员HOXD13基因的核苷酸序列为正常序列;7例患病者HOXD13基因第1外显子编码的多聚丙氨酸链中均被插入了9个丙氨酸残基,使得丙氨酸残基数由正常的15个延长为24个。结论该并多指(趾)畸形家系中HOXD13基因的致病突变为编码多聚丙氨酸链的延展突变,导致了典型的并多指(趾)畸形。Objective To investigate and analyze the mutation of homeobox D13(HOXD13)gene in a pedigree with synpolydactyly.Methods The data of a pedigree with synpolydactyly who were treated by the First Affiliated Hospital of Fujian Medical University in August 2013 were collected.The proband and all members were diagnosed based on clinical manifestations,imaging,and family history.Genomic DNA was extracted from peripheral blood of some members in the pedigree.The HOXD13 gene was identified by polymerase chain reaction(PCR)and DNA sequence analysis.Results Among the 35 members of this 4-generation family,12 patients were affected(5 males and 7 females),and the proband was a 20 years old female patient.All the patients had bilateral 3rd and 4th syndactyly with clinodactyly,which could not be extended,and the remaining fingers could move freely.The foot showed unilateral or bilateral 4th and 5th syndactyly with polydactyly in soft tissue web,which was consistent with the typical autosomal dominant synpolydactyly phenotypic characteristics.The analysis of HOXD13 gene in 19 family members(12 normal members and 7 patients)showed that the nucleotide sequences of HOXD13 gene in 12 normal members were normal,and 9 alanine residues were inserted into the polyalanine chain of the first exon 1 of HOXD13 gene in the 7 patients,which extended the alanine residue base from the normal 15 to 24.Conclusions The pathogenic mutation of HOXD13 gene in this pedigree was the extension mutation of polyalanine chain,which resulted in the typical synpolydactyly.

关 键 词：并指(趾) 多指(趾)畸形 基因 同源盒D13 DNA突变分析 聚丙氨酸 

分 类 号：R658[医药卫生—外科学]