先天性皮肤发育不全基因检测一例

Gene mutation analysis of congenital skin defects： a case report

患儿女，生后2h，因皮肤缺损并水疱2h就诊。体检：双下肢及左手腕皮肤成不对称缺损，右手手背可见一薄壁水疱，口腔黏膜部分缺失，余体检未见异常。基因检测结果：COL7A1（NM-000094）exon4：c．481c〉T；P．（Gln161＊）杂合，致病突变；COL7A1（NM-000094）exon14：C．1837C〉T；P．（Arg613＊）杂合，致病突变。患儿父母基因检测各有一致病突变。诊断：先天性皮肤发育不全。给予患儿保护性隔离，生理氯化钠溶液局部冲洗，并外用表皮生长因子、防治感染综合治疗，治疗6d出院，出院时皮损干燥无渗出。该病例提示，COL7A1（NM-000094）基因C．481位点和C．1837位点的杂合异常组成复合杂合子，为致病突变。

A female infant presented with skin defects and blisters for 2 hours after birth. Physical examination showed asymmetric skin defects on both lower extremities and left wrist, a thin-walled blister on the dorsal side of the right hand, and partial loss of the oral mucosa. No other abnormal signs were found. Genetic testing showed a heterozygous pathogenic mutation c.481C 〉 T （p. Gln161＊） in exon 4 of the COL7A1 （NM-000094） gene and a heterozygous pathogenic mutation e.1837C 〉 T （p. Arg613＊） in exon 14 of the COLTA1 （NM- 000094） gene, which were also identified in the patient＇s father and mother respectively. The infant was diagnosed with congenital skin defects. The patient received protective isolation, focal washing with 0.9% sodium chloride physiological solution, topical epidermal growth factor and comprehensive treatment for infection prevention. After 6-day treatment, the patient was discharged with dry and non-exudative skin lesions. This case prompted that abnormal heterozygosis mutation at C.481 and C.1837 sites on the COL7A1 （NM - 000094） gene could form compound heterozygote, acting aspathogenic r rotation.