关键词: Ehlers-Danlos综合征, DNA突变分析, 皮肤表现, COL5A1基因, 经典型

Abstract: 【Abstract】 Objective To analyze pathogenic gene mutations in a patient with classical Ehlers-Danlos syndrome. Methods Clinical data from the child were analyzed. Peripheral blood samples were collected from the child and his parents, and genomic DNA was extracted. Whole-exome sequencing was performed to obtain COL5A1 gene variations, and Sanger sequencing to bidirectionally verify the mutations in the patient and his parents. Results The 13-year-old male patient presented with hyperextensible, fragile, and soft skin after birth, and experienced redness, swelling and ulceration after receiving mild external force, with poor wound healing capacity and residual atrophic scars after healing; he also had joint hypermobility, decreased muscle tone, and delayed motor development, and was prone to fatigue. Genetic testing of the child showed a novel heterozygous nonsense mutation c.196C>T （p.Arg66Ter） in the COL5A1 gene, which was rated as a pathogenic mutation according to the American College of Medical Genetics and Genomics variant classification guidelines. Neither the child′s parents carried the mutation. Conclusion The novel heterozygous nonsense mutation c.196C>T （p.Arg66Ter） in the COL5A1 gene may be the causative mutation for the case of classical Ehlers-Danlos syndrome, and was considered as a pathogenic mutation.

Key words: Ehlers-Danlos syndrome, DNA mutational analysis, Skin manifestations, COL5A1 gene, Classical type