双下肢浅表播散型汗孔角化症一例基因突变检测

目的：检测一例局限于双下肢的散发浅表播散型汗孔角化症患者致病基因突变。方法：提取患者外周血DNA,在Illumina HiSeq测序平台进行全基因组外显子测序，将测序结果与既往报道的汗孔角化症致病基因比对，采用Sanger测序对发现的突变位点在100例患者中进行验证。结果：最终将DSP的致病基因锁定为位于12号染色体的MVK基因，检测到10号内含子c.1040-2A>C突变位点，在全部正常对照中未检测到该位点。经检索，该突变为浅表播散型和播散性浅表性光线型汗孔角化症的共同突变位点。结论：本家系中MVK基因突变位点(c.1040-2A>C)与浅表播散型汗孔角化症发病相关。

Mutation detection of superficial disseminated porokeratosis limited to lower extremities

Objective: To detect the mutation of a sporadic case with disseminated superficial porokeratosis (DSP) limited to lower extremities. Methods: DNA was extracted from blood samples of the patient and the product was sequenced by whole-exon sequencing through Illumina HiSeq. The sequencing results were compared with the disease genes of porokeratosis previously reported and the mutation was verified by Sanger sequencing in 100 normal controls. Results: A splice-site mutation (c.1040-2A>C) of intron 10 in MVK gene was found, and the mutation was not detected in all normal controls. The mutation was the co-mutation site of DSP and disseminated superficial actinic porokeratosis. Conclusion: MVK gene mutation (c.1040-2A>C) is associated with DSP in the patient.