http://www.cnr.it/ontology/cnr/individuo/prodotto/ID27320

Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. (Articolo in rivista)

Type

Articolo in rivista (Classe)
Prodotto della ricerca (Classe)

Label

Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. (Articolo in rivista) (literal)

Anno

2007-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

10.1002/humu.20419 (literal)

Alternative label

Botta E, Offman J, Nardo T, Ricotti R, Zambruno G, Sansone D, Balestri P, Raams A, Kleijer WJ, Jaspers NG, Sarasin A, Lehmann AR, Stefanini M. (2007)
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships.
in Human mutation; Wiley-Liss, New York (Stati Uniti d'America)
(literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

Botta E, Offman J, Nardo T, Ricotti R, Zambruno G, Sansone D, Balestri P, Raams A, Kleijer WJ, Jaspers NG, Sarasin A, Lehmann AR, Stefanini M. (literal)

Pagina inizio

92 (literal)

Pagina fine

96 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

28 (literal)

Rivista

Human mutation (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#note

IF (2005) = 7.923 Pubblicato on line 14 Sept 2006 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto

Recentemente è stato descritto da Nakabayashi et al. (Am J Hum Genet 76:510-516, 2005) il primo gene responsabile della forma non fotosensibile di tricotiodistrofia (TTD). Abbiamo quindi valutato il coinvolgimento di tale gene (C7orf11) in 44 pazienti TTD di diversa origine geografica e gravità clinica, raccolti e analizzati negli ultimi venti anni in quattro centri di riferimento per lo studio di malattie con difetti nella riparazione del DNA (Pavia, Brighton, Rotterdam e Villejuif). La presenza di una normale risposta cellulare agli UV aveva permesso di escludere in tutti questi casi la presenza di difetti nei geni responsabili della forma fotosensibile di TTD. Questo studio ha permesso di identificare sei casi portatori di mutazioni su entrambi gli alleli C7orf11, di dimostrare che la gravità del fenotipo clinico non correla con il tipo di mutazione, di confermare la presenza di eterogeneità genetica nella forma non fotosensibile di TTD e di evidenziare che mutazioni in C7orf11 non influenzano lattività riparativa e i livelli cellulari di TFIIH. Questi risultati aprono nuove possibilità di studio della forma non fotosensibile di TTD. (literal)

Note

PubMe (literal)
Scopu (literal)
ISI Web of Science (WOS) (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

Botta, Nardo, Ricotti Stefanini: IGM CNR, Pavia, Italy; Offman, Lehmann: Genome Damage and Stability Centre, University of Sussex, Brighton, UK; Zambruno: Lab. Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata, IRCCS, Rome, Italy; Sansone: Endocrinology Dept, University of Pisa, Italy; Balestri: Pediatrics Dept, University of Siena, Italy; Raams, Jaspers: Medical Genetic Center (MGC), Department of Cell Biology and Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands; Kleijer: Dept of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands; Sarasin: Institut Gustave Roussy, Centre National de la Recherche Scientifique (CNRS), Villejuif, France. (literal)

Titolo

Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. (literal)

Abstract

Trichothiodystrophy (TTD) is a rare autosomal recessive disorder whose defining feature is brittle hair. Associated clinical symptoms include physical and mental retardation of different severity, ichthyosis, premature aging, and, in half of the patients, photosensitivity. Recently, C7orf11 (TTDN1) was identified as the first disease gene for the nonphotosensitive form of TTD, being mutated in two unrelated cases and in an Amish kindred. We have evaluated the involvement of TTDN1 in 44 unrelated nonphotosensitive TTD cases of different geographic origin and with different disease severity. Mutations were found in six patients, five of whom are homozygous and one of whom is a compound heterozygote. All five identified mutations are deletions that have not been described before. Three are deletions of a few bases, resulting in frameshifts and premature termination codons. The other two include the whole TTDN1 gene, suggesting that TTDN1 is not essential for cell proliferation and viability. The severity of the clinical features does not correlate with the type of mutation, indicating that other factors besides TTDN1 mutations influence the severity of the disorder. Since only a small proportion of the analyzed cases were mutated in TTDN1, the nonphotosensitive form of TTD is genetically heterogeneous. Mutations in TTDN1 do not affect the response to ultraviolet (UV) light or the steady state level of the repair/transcription factor IIH (TFIIH), which is central to the onset of the photosensitive form of TTD. (c) 2006 Wiley-Liss, Inc. (literal)

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