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Article

Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.

Human mutation - 1 Mar 2009

Botta Elena, Nardo Tiziana, Orioli Donata, Guglielmino Roberta, Ricotti Roberta, Bondanza Sergio, Benedicenti Francesco, Zambruno Giovanna, Stefanini Miria

Abstract excerpt

Trichothiodystrophy (TTD) is a rare, autosomal recessive neurodevelopmental disorder most commonly caused by mutations in ERCC2 (XPD), a gene that encodes a subunit of the transcription/repair factor IIH (TFIIH). Here, we describe two TTD cases in which detailed biochemical and molecular investigations offered a clue to explain their moderately affected phenotype. Patient TTD22PV showed new mutated XPD alleles:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19085937
DOI: 10.1002/humu.20912

Genes

ERCC2

Variants

Provenance

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