Trichothiodystrophy (TTD) is a rare, autosomal recessive neurodevelopmental disorder most commonly caused by mutations in XPD, a gene that encodes a subunit of the transcription/repair factor TFIIH. The research group leaded by Miria Stefanini has recently characterised two new TTD cases showing moderate clinical features. Detailed biochemical and molecular investigations offered a clue to explain the clinical outcome of the patients and helped to shed light on the effect of specific mutations on TFIIH stability and functionality. More in general, the results of this study indicate that characterisation of patients with rare diseases represents a useful tool to gain insights into the in vivo functional effects of mutated proteins and into their impact on the whole organism.
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene. Human Mutation 30: 438-445, 2009.
Elena Botta1, Tiziana Nardo1, Donata Orioli1, Roberta Guglielmino1, Roberta Ricotti1, Sergio Bondanza2, Francesco Benedicenti3, Giovanna Zambruno2 and Miria Stefanini1
1 Istituto di Genetica Molecolare CNR, Pavia, Italy; 2 Laboratory of Tissue Engineering and Cutaneous Physiopathology and Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IRCCS, Rome, Italy; 3 Clinical Genetics Service, Department of Pediatrics, General Regional Hospital, Bolzano, Italy
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