Article
Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
Human mutation - 1 Oct 2018
Vahidnezhad Hassan, Youssefian Leila, Saeidian Amir Hossein, Touati Andrew, Sotoudeh Soheila, Jazayeri Ali, Guy Alyson, Lovell Patricia A, Liu Lu, Kariminejad Ariana, McGrath John A, Zeinali Sirous, Uitto Jouni
Abstract excerpt
Epidermolysis bullosa (EB) is a heterogeneous group of heritable blistering diseases. We developed a next generation sequencing (NGS) panel covering 21 genes associated with skin fragility disorders, and it was applied to DNA from 91 probands with the diagnosis of EB. In one patient, novel homozygous mutations were disclosed in two different, unlinked EB-associated genes: EXPH5, chr11 g.108510085G > A;...
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