【摘要】 目的 确定先天性鱼鳞病样红皮病(congenital ichthyosis erythroderma, CIE)一家系致病基因突变，探讨本病基因型和表型。方法 收集1个CIE家系临床资料，提取患者及其父母全基因组DNA,进行基因测序并采用Sanger测序验证先证者及其父母突变。结果 患者男，21岁，全身皮肤弥漫红斑、鳞屑伴掌跖角化21年。患者IgE 2 500 IU/mL;基因检测结果显示：患者为ALOX12B基因c.285dupT(p.Ile96Tyrfs*29)纯合变异，其父母为近亲婚配，均为ALOX12B基因c.285dupT(p.Ile96Tyrfs*29)位点杂合变异携带者。美国医学遗传学和基因组学学会(ACMG)指南提示该位点突变为致病性变异(PVS1+PM2+PM3)。结合患者临床表现、辅助检查及基因检测结果诊断为CIE。结论 本研究在1个CIE家系中检测到ALOX12B基因c.285dupT(p.Ile96Tyrfs*29)纯合变异，该突变位点目前国内外尚无报道，丰富了CIE的基因型。更多还原

【Abstract】 Objective To identify the pathogenic gene mutation of a family with congenital ichthyosis erythroderma(CIE) and to explore the relationship between the genotype and phenotype of the disease.Methods Clinical data of a family of CIE was collected, the whole genome DNA of the patient and his parents was extracted and sequenced, and the gene mutations of the patient and his parents were verified by Sanger sequencing.Results The patient, a 21-year-old man, presented with diffuse erythema, fine scaling and palmoplantar hyperkeratosis for 21 years. The patient had an increased IgE level(2 500 IU/mL). Sequencing results showed a homozygous variant c.285dupT(p.Ile96Tyrfs*29) of the ALOX12B gene in the patient, while both parents carried heterozygous variant c.285dupT(p.Ile96Tyrfs*29) of the ALOX12B gene. American College of Medical Genetics and Genomics(ACMG) guidelines indicated that the mutation was pathogenic(PVS1+PM2+PM3). The patient was diagnosed with CIE based on clinical manifestation, accessory examination and genetic test. Conclusion This study detects a homozygous variant c.285dupT(p.Ile96Tyrfs*29)of the ALOX12B gene in a family with CIE. This mutation site has not been reported in China or internationally, which enriched the genotype of CIE.更多还原