Novel compound heterozygous mutations in the desmoplakin gene cause hair shaft abnormalities and culminate in lethal cardiomyopathy.
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.
Department of Dermatology, Glan Clwyd Hospital, Bodelwyddan, UK.
P D
PD
Yesudian
R M
RM
Cabral
E
E
Ladusans
S
S
Spinty
J
J
Gibbs
A
A
Fryer
A M
AM
Christiano
S S
SS
Mendelsohn
D000505:Alopecia / Q000235:genetics*; D019943:Amino Acid Substitution; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D051180:Desmoplakins / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005533:Foot Dermatoses / Q000235:genetics; D016368:Frameshift Mutation; D018859:Hair Follicle / Q000002:abnormalities*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007645:Keratoderma, Palmoplantar / Q000235:genetics
D051180:Desmoplakins