一对男性双胞胎银屑病FLG基因杂合突变分析

Analysis of FLG Gene Heterozygous Mutations in a Pair of Male Twins with Psoriasis

先证者男,28岁,全身皮肤反复鳞屑性红斑、丘疹3年余。3年前无明显诱因头皮、躯干、四肢出现鳞屑性丘疹和斑块,其同卵胞兄4年前出现形态和部位类似的皮疹,皮肤病理活检均确诊为银屑病,经送华大基因DNA全外显子测序和Sanger测序验证发现,二者均为c.3321delA;p.Gly1109Glu杂合突变,推测该基因是本例双胞胎银屑病的易感基因。

The proband,male,28 years old,has recurrent scaly erythema and papules on the whole body′s skin for more than three years.Three years ago,there was no obvious inducement for scaly papules and plaques on the scalp,trunk and limbs.Four years ago,his identical brother had a skin rash with similar shape and location.Skin pathological biopsy was confirmed to be psoriasis.After sending Huada Gene DNA full exon sequencing and Sanger sequencing,it was found that the two were heterozygous mutation of c.3321delA;p.Gly1109Glu suggests that this gene is the susceptibility gene of this psoriatic twin.