Abstract: Objective: To report a case of autosomal dominant cutis laxa (ADCL) associated with ELN gene mutation and to investigate the gene mutations in the patient and her family. Methods: Clinical data of the patient were collected, including medical history and physical examination. Peripheral blood samples were collected from the child and her parents, and genomic DNA was extracted. High-throughput second-generation gene sequencing technology was used to screen for genetic skin disease genes, and candidate mutation sites were verified by Sanger sequencing. Results: The patient presented with generalized skin laxity accompanied by sagging skin on the cheeks. Her parents did not exhibit similar skin lesions. A heterozygous mutation, c.1985delG (p.G662fs*25), was detected in the patient's ELN gene, while neither parent showed this mutation. No healthy individuals carrying this mutation were found in the Thousand Genomes Database. Protein site analysis revealed that the gene frameshift mutation resulted in a truncated protein. Conclusion: The heterozygous ELN c.1985delG (p.G662fs*25) mutation carried by the child is the pathogenic gene in this case.

Key words: cutis laxa, ELN gene, gene mutation