【摘要】 目的:报道1例掌跖角化病，确定其致病基因及分型。方法:收集患者的临床资料及外周血，提取患者及父母、姐姐的外周血DNA,利用全外显子测序确定患者的致病突变，应用Sanger测序验证突变位点。结果:该患者存在SLURP-1基因c.256G>A和c.110G>A复合杂合突变，其父存在c.110G>A杂合突变，母存在c.256G>A杂合突变。结合患者掌跖弥漫性蜡状角化过度的临床表现，诊断为梅勒达病。结论:本研究明确了该患者诊断及致病基因。更多还原

【Abstract】 Objective: To report a case of palmoplantar keratoderma, identify the pathogenic gene, and assist in confirming the clinical diagnosis. Methods: Clinical data and peripheral blood samples were collected from the patient, as well as from the patient’s parents and sister. Genomic DNA was extracted from the peripheral blood of all participants. Whole-exome sequencing was performed to identify potential pathogenic mutations in the patient. The identified mutations were subsequently validated using Sanger sequencing. Results: The patient was found to carry compound heterozygous mutations in the SLURP-1 gene: c.256G>A and c.110G>A. Genetic analysis revealed that the father carried a heterozygous c.110G>A mutation, while the mother carried a heterozygous c.256G>A mutation. Based on the clinical presentation of diffuse waxy hyperkeratosis on the palms and soles, the patient was diagnosed with Mal de Meleda. Conclusion: This study confirmed the diagnosis and identified the pathogenic gene responsible for the condition in this patient.更多还原