中华皮肤科杂志 ›› 2018, Vol. 51 ›› Issue (6): 445-447.doi: 10.3760/cma.j.issn.0412-4030.2018.06.012

• 研究报道 • 上一篇    下一篇

先天性皮肤发育不全基因检测一例

樊晓艳,李慧,汪佳,杨丽   

  1. 泰州市人民医院
  • 收稿日期:2017-05-08 修回日期:2017-07-30 出版日期:2018-06-15 发布日期:2018-05-30
  • 通讯作者: 樊晓艳 E-mail:fxyang@126.com

Gene mutation analysis of congenital skin defects: a case report

Fan-Xiaoyan 2, 2, 2   

  • Received:2017-05-08 Revised:2017-07-30 Online:2018-06-15 Published:2018-05-30
  • Contact: Fan-Xiaoyan E-mail:fxyang@126.com

摘要: 患儿女,生后2 h,因皮肤缺损并水疱2 h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6 d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。

关键词: 局灶性皮肤发育不全, 基因检测, 大疱性表皮松解, 遗传性疾病, 先天性, COL7A1基因

Abstract: Fan Xiaoyan, Li Hui, Wang Jia, Yang Li, Wu Hui Department of Neonatology, Jiangsu Taizhou People′s Hospital, Taizhou 225300, Jiangsu, China(Fan XY, Li H, Yang L); Department of Reproductive Medicine, Jiangsu Taizhou People′s Hospital, Taizhou 225300, Jiangsu, China(Wang J); Department of Dermatology, Jiangsu Taizhou People′s Hospital, Taizhou 225300, Jiangsu, China(Wu Hui) Corresponding author: Fan Xiaoyan, Email: fxyang@126.com 【Abstract】 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 c.1837C > T (p. Arg613*) in exon 14 of the COL7A1 (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 ed that abnormal heterozygosis mutation at C.481 and C.1837 sites on the COL7A1(NM-000094)gene could form compound heterozygote, acting as pathogenic mutation.

Key words: Focal dermal hypoplasia, Genetic testing, Epidermolysis bullosa, Genetic diseases, inborn, COL7A1 gene