目的 检测一例临床诊断为眼皮肤白化病但未行分型的患者的基因变异。方法 采集患者外周血通过全外显子测序筛查、一代测序验证基因的突变位点，检索突变在人群中发生的频率，参考美国医学遗传学和基因组学学会指南判断检出突变的致病性，进行患者的基因诊断及眼皮肤白化病分型。结果 在患者SLC45A2基因上检测到一个1个纯合错义变异:c.478G>C:p.D160H，SLC45A2基因异常导致常染色体隐性遗传的眼皮肤白化病4型，已有文献报道在眼皮肤白化病患者中检测到该变异。结论 SLC45A2基因上杂合变异exon13:c.912+1G>C是导致患者眼皮肤白化病的致病原因，据此突变位点确诊患者为眼皮肤白化病4型。

Objective To detect the gene variation of a patient with ocular skin albinism but not genotyped Methods Collect the patient's peripheral blood, screen the mutation sites of genes through whole exon sequencing and first-generation sequencing, retrieve the frequency of mutations in the population, judge the pathogenicity of the detected mutations with reference to the guidelines of the American Society of medical genetics and genomics, and carry out the patient's gene diagnosis and ocutaneous albinism typing. Results A homozygous missense mutation was detected in SLC45A2 gene: C. 478G > C: P. D160H. The abnormality of SLC45A2 gene resulted in autosomal recessive ocutaneous albinism type 4. It has been reported that this mutation was detected in ocutaneous albinism patients. Conclusion The heterozygous mutation exon13: C. 912 +1G > C in SLC45A2 gene is the cause of ocutaneous albinism. According to the mutation site, the patient is diagnosed as ocutaneous albinism type 4.