✦ LIBER ✦

Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: Identification of thirteen novel alleles

✍ Scribed by Maria Savino; Maria d'Apolito; Vincenza Formica; Filomena Baorda; Francesca Mari; Alessandra Renieri; Enrico Carabba; Enrico Tarantino; Elena Andreucci; Serena Belli; Lorenzo Lo Muzio; Bruno Dallapiccola; Leopoldo Zelante; Anna Savoia

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 57 KB
Volume: 24
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.9289

No coin nor oath required. For personal study only.

✦ Synopsis

The nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant genetic disease characterized by numerous basal cell carcinomas, odontogenic keratocysts of the jaws, palmar and plantal pits, skeletal abnormalities, and calcification of the falx cerebri. The gene responsible for this syndrome is the PTCH tumor suppressor gene encoding for the sonic hedgehog receptor. In this paper, we report thirteen novel mutations identified in the first screening of NBCCS patients in Italy. Except for p.T230P and p.F505_L506delinsLR, all the other mutations are predicted to determine a premature truncation of the protein.

📜 SIMILAR VOLUMES

DHPLC Analysis of patients with Nevoid B

DHPLC Analysis of patients with Nevoid Basal Cell Carcinoma Syndrome reveals novel PTCH missense mutations in the sterol-sensing domain

✍ A. Marsh; C. Wicking; B. Wainwright; G. Chenevix-Trench 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 87 KB 👁 2 views

Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal dominant disorder characterised by multiple basal cell carcinomas, palmar and plantar pitting, odontogenic keratocysts of the jaws and bilamellar calcification of the falx. Mutations in the PTCH gene are responsible for NBCCS but most stud

Mutations in the human homologue of Dros

Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients

✍ Katsunori Fujii; Yoichi Kohno; Katsuo Sugita; Mihoko Nakamura; Yoichi Moroi; Kaz 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 331 KB 👁 1 views

Mutations in the human homologue of Drosophila patched (PTCH) have been identified in patients with nevoid basal cell carcinoma syndrome (NBCCS; also called Gorlin syndrome) as well as sporadic basal cell carcinomas and medulloblastomas. However, using PCR-SSCP analysis, mutations in PTCH have been

Deletion analysis of the adenomatous pol

Deletion analysis of the adenomatous polyposis coli and PTCH gene loci in patients with sporadic and nevoid basal cell carcinoma syndrome-associated medulloblastoma

✍ Alexander O. Vortmeyer; Theodora Stavrou; Dena Selby; Guang Li; Robert J. Weil; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 263 KB 👁 3 views

## BACKGROUND. Medulloblastomas can occur sporadically or may be associated with hereditary tumor syndromes including familial adenomatous polyposis (FAP) and nevoid basal cell carcinoma syndrome (NBCCS). ## METHODS. The authors performed a retrospective analysis for allelic deletion of the adeno

Spectrum of UGT1A1 mutations in Crigler-

Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation

✍ Veronica Servedio; Maria d'Apolito; Nunzia Maiorano; Barbara Minuti; Francesca T 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 137 KB

## Communicated by Sergio Ottolenghi Crigler-Najjar syndrome types I and II (CN1 and CN2) are usually inherited as autosomal recessive conditions and are characterized by non-hemolytic unconjugated hyperbilirubinaemia. CN1 is the most severe form, associated with the absence of hepatic bilirubin-u

Spectrum of FANCA mutations in Italian F

Spectrum of FANCA mutations in Italian Fanconi anemia patients: Identification of six novel alleles and phenotypic characterization of the S858R variant

✍ Maria Savino; Adriana Borriello; Maria d'Apolito; Maria Criscuolo; Maria Del Vec 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 136 KB 👁 1 views

Fanconi anemia (FA) is an autosomal recessive disorder characterized by genomic instability, bone marrow failure, congenital malformations, and cancer predisposition. FA is a genetically heterogeneous disease with at least seven genes so far identified. The role of FA proteins is unknown although th