Novel Compound Heterozygous Mutations in the Desmoplakin Gene Cause Hair Shaft Abnormalities and Culminate in Lethal Cardiomyopathy

The study identified novel compound heterozygous mutations in the desmoplakin gene, which were associated with hair shaft abnormalities and ultimately led to lethal cardiomyopathy. Desmoplakin is a critical component of desmosomes, which are structures that provide mechanical integrity to tissues. Mutations in this gene disrupted the normal function of desmosomes, resulting in structural defects in hair and severe cardiac issues. The findings highlighted the importance of genetic screening for desmoplakin mutations in patients presenting with hair abnormalities and potential cardiac symptoms, as early detection could be crucial for managing the associated health risks.