Gene mutation analysis of congenital skin defects: a case report

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 prompted 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