关键词: 外胚层发育不良症, DNA突变分析, 睑缘粘连-外胚层发育不良-唇/腭裂综合征, 基因, TP63

Abstract: 【Abstract】 Objective To analyze pathogenic mutations in a child with ankyloblepharon-ectodermal dysplasia-clefting syndrome. Methods Clinical data were collected from the patient, and DNA was extracted from peripheral blood samples from the patient and his parents. High-throughput sequencing was performed in the patient by using a gene panel targeting hereditary skin diseases, aiming to determine sites of disease-causing gene mutations. Then, Sanger sequencing was conducted to bidirectionally verify the mutations in the patient and his parents. Results The male patient aged 3 years and 9 months, and presented with extensive erythema, scales, erosions as well as repeated infections and erosions of the scalp after birth. Reticulated hyper-and hypopigmented patches and scars left on the trunk and limbs after healing of erosions. Physical examination also showed sparse scalp hair, absence of most eyebrows and eyelashes, cleft palate, dysplastic teeth, dystrophic finger and toe nails, and deformed ears without ankyloblepharon. Genetic testing of the patient showed a novel heterozygous missense mutation c.1790T>A（p.Ile597Asn） in the TP63 gene, which had not been reported previously and was rated as pathogenic by American College of Medical Genetics and Genomics. This mutation was not identified in either of his parents. Conclusion The novel heterozygous missense mutation c.1790T>A in the TP63 gene probably contributes to ankyloblepharon-ectodermal dysplasia-clefting syndrome in the patient, which expands genotypic and phenotypic spectrum of this disease.

Key words: Ectodermal dysplasia, DNA mutational analysis, Skin manifestations, Ankyloblepharon-ectodermal dysplasia-clefting syndrome