线性痣皮脂腺综合征(LNSS)是一种罕见的遗传性疾病,其特征是典型的面部大型线性皮脂腺痣,头皮,或脖子。LNSS可能伴有包括中枢神经系统在内的多系统疾病。在这里,我们通过对1例LNSS患者的病变和非病变皮肤样本进行全外显子组测序,报告了基因突变谱.
一名17岁女孩出现多系统异常,包括大面积的皮肤损伤,眼部疾病,骨骼发育异常和神经系统症状。根据临床表现确定LNSS的诊断。组织病理学和影像学发现。切除皮肤损伤,在起草本报告时没有发现复发。基因组DNA的全外显子组测序显示索引患者的病变中存在以下3种突变:KRAS(c.35G>A,p.G12D),PRKRIR(c.A1674T,p.R558S),和RRP7A(c。C670T,p.R224W),但是在索引患者的健康皮肤和外周血样本中没有发现突变,或者是她父母和兄弟姐妹的血液样本.PCR介导的Sanger测序来自索引患者的病变皮肤样本的DNA验证KRAS突变,但不是PRKRIR(c.A1674T,p.R558S)和RRP7A(c。C670T,p.R224W)。在其他60例皮脂腺痣患者的皮肤病变中,在Sanger测序中未发现3种突变。
我们的研究结果表明KRAS突变与LNSS的相关性,为理解相关的遗传异质性提供新的线索,这可能有助于LNSS患者的遗传咨询。
Linear nevus sebaceous syndrome (LNSS) is a rare genetic disease characterized by large linear sebaceous nevus typically on the face, scalp, or neck. LNSS could be accompanied by multisystem disorders including the central nervous system. Herein, we report gene mutational profile via whole exome sequencing of both lesional and non-lesional skin samples in a LNSS patient.
A 17-year-old girl presented with multisystem abnormalities, including large skin lesions, ocular disorders, abnormal bone development and neurological symptoms. A diagnosis of LNSS was established based on clinical manifestations, histopathological and imaging findings. The skin lesions were resected and no recurrence was noted at the time of drafting this report. Whole exome sequencing of genomic DNA revealed the following 3 mutations in the lesions of the index patient: KRAS (c.35G > A, p.G12D), PRKRIR (c.A1674T, p.R558S), and RRP7A (c. C670T, p.R224W), but no mutation was found in the healthy skin and peripheral blood sample of the index patient, or in the blood samples of her parents and sibling. PCR-mediated Sanger sequencing of DNA derived from lesional skin sample of the index patient verified KRAS mutation, but not PRKRIR (c.A1674T, p.R558S) and RRP7A (c. C670T, p.R224W). None of the 3 mutations was found in Sanger sequencing in skin lesions of 60 other cases of nevus sebaceous patients.
Our findings show the relevance of KRAS mutation to LNSS, providing new clues in understanding related genetic heterogeneity which could aid genetic counselling for LNSS patients.