ABSTRACT
Objective:To detect genetic mutations in a child with woolly hair and keratotic skin lesions on the knees, palms and soles but without cardiac symptoms.Methods:Clinical data were collected from the patient and her parents, and DNA was extracted from peripheral blood of the patient, her parents and 100 unrelated healthy controls. A next-generation skin-targeted sequencing panel was used to detect gene mutations, and Sanger sequencing was performed for verification.Results:The 3-year-old female patient had presented with curly hair since birth, palmoplantar keratoderma with knee involvement since the age of 8 months. Phenotypes of the patient′s parents were normal. Sequencing revealed a frameshift mutation c.5152dupT (p.L1718Ffs*15) in exon 23 and a nonsense mutation c.C6478T (p.R2160X) in exon 24 of the desmoplakin (DSP) gene in the patient. The frameshift mutation c.5152dupT was also identified in her mother, but no mutation was found in exon 24 of the DSP gene in her mother. No mutation was found in the patient′s father or the 100 healthy controls. The patient was diagnosed with Carvajal syndrome.Conclusion:Compound heterozygous mutations in the DSP gene were identified in the patient with Carvajal syndrome, including c.5152dupT (p.L1718Ffs*15) and c.C6478T (p.R2160X) mutations, which may contribute to the occurrence of Carvajal syndrome.
