Novel desmoplakin mutations in familial Carvajal syndrome.

We report a patient with CS caused by two novel mutations in DSP gene, inherited from his parents, both asymptomatic. The same phenotype was present in his younger sister who showed skin abnormality and woolly hairs. The segregation analysis of the known loci in DSP gene performed by genetic testing, was able to established the trans position of the two mutations (c.6986T > C and c.7123G > C) in the patient and his sister. The first mutation has been inherited from the mother, the other one from the father. The resulting compound heterozygous mutation in the siblings, is likely the cause of the disease. PMID: 30944905 [PubMed - in process]
Source: Acta Myologica - Category: Neurology Tags: Acta Myol Source Type: research