手足分裂畸形(Split-hand/foot malformation,SHFM)是一种严重的先天性畸形,以肢端正中轴指(趾)发育不全而剩余指(趾)呈不同形式融合为特征,表现为手/足中央裂隙、并指(趾)、指(趾)骨及掌(跖)骨发育不全,可独立或伴综合征出现。迄今为止,已发现7个引起非综合征型手足分裂畸形的染色体位点,即SHFM1-6和SHFM/SHFLD。SHFM1、SHFM3、SHFM4和SHFM5与染色体重排有关,包括基因组的小范围缺失和重复;SHFLD主要涉及染色体区段的重复;SHFM2和SHFM6出现频率较低,机制尚不明确。本文将对每个SHFM位点的突变形式、发生频率、检测方法及对应的遗传咨询进行综述,并探讨其可能的致病机制。

Split-hand/foot malformation(SHFM)is a severe congenital malformation with hand/foot crack,syndactyly and hypoplasia of phalange and metacarpal. SHFM, characterized by defect or dysplasia of central rays and fusion of other rays, occurs as an isolated trait or a part of congenital anomaly syndrome. By far, 7 chromosomal loci associated with isolated SHFM have been confirmed, i.e., SHFM1-6 and SHFM/SHFLD. SHFM1, SHFM3, SHFM4 and SHFM5 are related with chromosomal rearrangement,including genomic small-scale deletion and duplication.SHFLD mainly relates to duplication of chromosome section. SHFM2 and SHFM6 have low frequency and the mechanism is not yet clear. In this paper, the gene mutations,frequency,test method,corresponding genetic counseling and their mechanism were all reviewed.