A TMC8 splice variant causes epidermodysplasia verruciformis in a Pakistani family

We identified a novel homozygous disease-causing variant in TMC8 in a Pakistani family with epidermodysplasia verruciformis (EV). The phenotype of EV in the affected individuals was most probably caused by an aberrant splicing process. The molecular genetic findings in our patients expand the mutational spectrum of the disease.

Automated summary

A novel homozygous disease-causing variant in TMC8 was identified in a Pakistani family with epidermodysplasia verruciformis (EV). The phenotype of EV in the affected individuals was most likely caused by aberrant splicing process. The molecular genetic findings in this study expand the mutational spectrum of the disease.