A Child Demonstrating Characteristics Of Trichothiodystrophy (ttd), Xeroderma Pigmentosa (xp), And Primary Immunodeficiency (pid) Displays A Novel Ercc2 (xpd) Gene Mutation

Abstract

Although TTD and XP represent separate and distinct clinical syndromes, prior studies for both diseases have implicated numerous mutations in the same gene - ERCC2 (XPD). XPD, a subunit of transcription factor TFIIH, plays a vital dual role in DNA nucleotide excision repair and RNA transcription. TTD is characterized by sulfur-deficient, brittle hair, global developmental delay, immune deficiency and abnormal facies likely representative of RNA transcription dysfunction. XP presents with multiple skin anomalies and increased risk for skin malignancy probably associated with a disorder of DNA damage repair.