LB1086 Deep phenotyping using principal component analysis effectively arrays XPD (ERCC2) xeroderma pigmentosum and trichothiodystrophy patient phenotypes: The XP-TTD coefficient

XPD, coded by ERCC2, is a helicase component of the basal transcription factor, TFIIH, involved in both DNA repair and transcription. Mutations in XPD that cause xeroderma pigmentosum (XP) may be predominately associated with repair-affecting mutations while transcription-affecting XPD mutations may be predominately associated with trichothiodystrophy (TTD). XP is characterized by extreme sensitivity to sun damage, sun-induced cancers and neurodegeneration in some patients. The diagnostic symptom of TTD is brittle, sulfur-deficient hair, but subjects have a broad range of features including skeletal, developmental, and immune abnormalities.

Source: Journal of Investigative Dermatology - August 21, 2019 Category: Dermatology Authors: J.M. Pugh, G.W. Nelson, M.A. Levoska, P.F. Hanona, D. Tamura, E.R. Heller, S.G. Khan, M. Scheibye-Knudsen, J.J. DiGiovanna, K.H. Kraemer Tags: Genetic Disease, Gene Regulation, and Gene Therapy Source Type: research