Tella Sunitha, Sultana Shehnaz, Madireddy Sujatha, Nallari Pratibha, Ananthapur Venkateshwari
Department of Cell Biology, Institute of Genetics and Hospital for Genetic Diseases, Osmania University, Hyderabad, Telangana, India.
Indian J Dermatol. 2022 Jan-Feb;67(1):45-49. doi: 10.4103/ijd.ijd_880_20.
Epidermolysis bullosa (EB) is a group of rare inherited conditions that results in blistering of the skin and mucous membranes. Mutations in the PLEC gene cause epidermolysis bullosa simplex (EBS). Mutations in type VII collagen, encoded by COL7A1 lead to epidermolysis bullosa dystrophica (EBD). The report presents three autosomal recessive cases, one with epidermolysis bullosa simplex (EBS) with nail and muscular dystrophy showing heterozygous single base pair deletion in exon 31 (chr8:144998220delC; c. 6288del; p. Arg2097AlafsTer55) and a heterozygous two base pair deletion in exon 27 (chr8:145001693_145001694delCT; c. 4054_4055del; p. Ser1352CysfsTer68) of PLEC gene. Two cases of epidermolysis bullosa dystrophica (EBD), with a novel homozygous, nonsense mutations in exon 54 (c. 5047C > T) and exon 104 (c. 7762C > T) of COL7A1 gene. The findings of the case report, provide evidence for additional molecular heterogeneity, in epidermolysis bullosa and also emphasize the significance of PLEC and COL7A1 gene mutations in epidermolysis bullosa.
大疱性表皮松解症（EB）是一组罕见的遗传性疾病，可导致皮肤和黏膜出现水疱。PLEC基因突变会引起单纯型大疱性表皮松解症（EBS）。由COL7A1编码的VII型胶原蛋白突变会导致营养不良型大疱性表皮松解症（EBD）。该报告介绍了3例常染色体隐性遗传病例，1例为单纯型大疱性表皮松解症（EBS）合并甲营养不良和肌肉萎缩症，其PLEC基因第31外显子存在杂合性单碱基对缺失（chr8:144998220delC；c. 6288del；p. Arg2097AlafsTer55），第27外显子存在杂合性双碱基对缺失（chr8:145001693_145001694delCT；c. 4054_4055del；p. Ser1352CysfsTer68）。2例营养不良型大疱性表皮松解症（EBD）患者，COL7A1基因第54外显子（c. 5047C > T）和第104外显子（c. 7762C > T）存在新的纯合性无义突变。该病例报告的研究结果为大疱性表皮松解症中更多的分子异质性提供了证据，同时也强调了PLEC和COL7A1基因突变在大疱性表皮松解症中的重要性。
