Novel compound heterozygous mutations in the desmoplakin gene cause hair shaft abnormalities and culminate in lethal cardiomyopathy. (1st June 2014)

• Record Type: Journal Article
• Authors: Yesudian, P. D.; Cabral, R. M.; Ladusans, E.; Spinty, S.; Gibbs, J.; Fryer, A.; Christiano, A. M.; Mendelsohn, S. S.
• Is Part Of: Clinical and experimental dermatology. Volume 39:Number 4(2014)
• Page Start: 506
• Page End: 508
• Publication Date: 2014-06-01
• Subjects: Skin -- Diseases -- Periodicals; 616.5
• DOI: 10.1111/ced.12329
• Languages: English
• ISSNs: 0307-6938

Abstract

Summary: A 2‐month‐old white girl born to nonconsanguineous parents presented to the dermatology department with hair loss that had commenced a few months after birth. Although her hair loss later stabilized, it remained sparse. By the age of 2 years, she was noted to have developed focal keratoderma over pressure points of the soles. Aged 5 years, she was admitted to hospital with a chest infection, and investigations at that point revealed that she had a dilated cardiomyopathy. Subsequent genetic investigations identified compound heterozygous mutations in the 3′ end of the desmoplakin ( DSP ) gene (7567delAAGA and 6577G>A), explaining the cardiocutaneous phenotype.