染色体10q24.31片段重复导致先天性缺指/缺趾畸形的一个家系致病机理分析

张秀泉,王建,熊符,吕伟标,周远青,杨少民,张玉婷,田小燕,连蔚,徐湘民

Congenital ectrodactyly caused by chromosome 10q24.31 duplication and its pathogenetic analysis

Zhang Xiuquan,Wang Jian,Xiong Fu,Lv Weibiao,Zhou Yuanqing,Yang Shaomin,Zhang Yuting,Tian Xiaoyan,Lian Wei,Xu Xiangmin

表2 先天性手足裂畸形分型及其遗传连锁

Table 2 Types of SHFM and their genetic linkage

分型 遗传方式 基因位点 关联基因 肢端特征 并发综合征 SHFM-Ⅰ AD 7q21.2-q21.3 dssi, dlx5, dlx6 手足裂 EEC/Sensorineural deafness、MR SHFM-Ⅱ X-Link Xq26 fgf13, tondu 手足裂,并指/趾, 掌骨/指骨发育不良 SHFM-Ⅲ AD 10q24-q25 Duplication hug1, tlx1, lbx1, btrc, poll, fbxw4 手足裂,三指/趾, 拇指/趾重复 SHFM-Ⅳ AD 3q27 tp63 手足裂,缺指/趾, 掌骨/指骨发育不全 EEC、ADULT、LADD、 CHARGE、VATER/MR SHFM-Ⅴ AD 2q24.3-q31 tlx1, dlx2 手足裂 MR, ectodermal & craniofacial findings, orofacial clefting SHFM-Ⅵ AR 12q13.11-q13 tp63, wnt10b, dlx5 手足裂,胫骨发育不全 SHFM/SHFLD AD Dup17p13.3 Del19p13.11 bhlha9 手足裂,胫骨发育不全