关键词: 鳞癣样红皮病, 先天性, 肝功能不全, 听觉丧失, 感音神经性, DNA突变分析, Chanarin-Dorfman综合征, 基因, ABHD5, Jordan小体

Abstract: 【Abstract】 Objective To detect gene mutations and make a diagnosis in a family with ichthyosis accompanied by liver injury. Methods Clinical data were collected from the proband, and genomic DNA was extracted from peripheral blood samples from the proband and his parents. Exome sequencing was performed in the proband by using a gene panel targeting hereditary skin diseases to identify mutation sites, and then the candidate mutation site was verified by PCR and Sanger sequencing in the family members. Results of peripheral blood smear examination and other auxiliary examinations were collected from the proband and his parents and analyzed. Results The proband presented with generalized dry skin and tiny white scales on the lower limbs, accompanied by elevated transaminase levels, mild sensorineural hearing loss in both ears and fatty liver. Exome sequencing revealed a homozygous mutation c.933dupA in exon 6 of the ABHD5 gene encoding CGI-58 protein in the peripheral blood genomic DNA of the proband, resulting in a frameshift mutation p.R312Tfs*45 in the amino acid sequence. Heterozygous mutations at this site were identified in his father and mother. The mutation cosegregated with the disease phenotype in the family. The peripheral blood smear examination of the proband showed lipid vacuoles in neutrophils, which were called Jordan anomaly. Conclusion The diagnosis of Chanarin-Dorfman syndrome was made in the proband based on the presentation of ichthyosis-like skin lesions and abnormal liver function, as well as the homozygous mutation in the ABHD5 gene and Jordan anomaly in peripheral blood smears.

Key words: Ichthyosiform erythroderma, congenital, Hepatic insufficiency, Hearing loss, sensorineural, DNA mutational analysis, Chanarin-Dorfman syndrome, Gene, ABHD5, Jordan anomaly