caa a22 4500 445330910 CHVBK 20180317142737.0 cr unu---uuuuu 170323e20110901xx s 000 0 eng 10.1007/s10689-011-9451-0 doi (NATIONALLICENCE)springer-10.1007/s10689-011-9451-0 A novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Tunisian family with FAP [Elektronische Daten] [Imen Miladi-Abdennadher, Ali Amouri, Lobna Ayadi, Abdelmajid Khabir, Sameh Ellouze, Nabil Tahri, Mounir Frikha, Tahia Sellami-Boudawara, Raja Mokdad-Gargouri] Familial adenomatous polyposis (FAP) is an autosomal dominant disorder which typically presents with colorectal cancer in early adult life, secondary to extensive adenomatous polyps of the colon. In addition to the colonic manifestations, the syndrome presents several extracolonic features including, congenital hypertrophy of the retinal pigment, osteomata and desmoid tumors. In this study, we aimed to investigate the clinical and genetic features in a Tunisian family with FAP. Sequence of the APC gene (Adenomatous Polyposis Coli) revealed a novel mutation (c.2016-2017 del TA) in exon 15, present in all affected individuals in an heterozygous state. The frameshift mutation generates a premature stop codon at amino acid 677 of the APC protein (p. H672Qfs X5). The unaffected family members did not harbor this mutation, however, a first degree relative of the patient aged of 32year-old was phenotypically normal but carries the c.2016-2017 del TA mutation. This discrepancy can be explained by the effect of modifier gene which can affect the expressivity of the disease. Springer Science+Business Media B.V., 2011 APC gene nationallicence Adenomatous familial polyposis nationallicence Intra familial phenotypic variation nationallicence Miladi-Abdennadher Imen Centre de Biotechnologie de Sfax, Route Sidi Mansour, BP «1177», 3038, Sfax, Tunisia aut Amouri Ali Centre Hospitalo-Universitaire Habib Bourguiba, Sfax, Tunisia aut Ayadi Lobna Centre Hospitalo-Universitaire Habib Bourguiba, Sfax, Tunisia aut Khabir Abdelmajid Centre Hospitalo-Universitaire Habib Bourguiba, Sfax, Tunisia aut Ellouze Sameh Centre Hospitalo-Universitaire Habib Bourguiba, Sfax, Tunisia aut Tahri Nabil Centre Hospitalo-Universitaire Habib Bourguiba, Sfax, Tunisia aut Frikha Mounir Centre Hospitalo-Universitaire Habib Bourguiba, Sfax, Tunisia aut Sellami-Boudawara Tahia Centre Hospitalo-Universitaire Habib Bourguiba, Sfax, Tunisia aut Mokdad-Gargouri Raja Centre de Biotechnologie de Sfax, Route Sidi Mansour, BP «1177», 3038, Sfax, Tunisia aut Familial Cancer Springer Netherlands 10/3(2011-09-01), 567-571 1389-9600 10:3<567 2011 10 10689 https://doi.org/10.1007/s10689-011-9451-0 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10689-011-9451-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Miladi-Abdennadher Imen Centre de Biotechnologie de Sfax, Route Sidi Mansour, BP «1177», 3038, Sfax, Tunisia aut NATIONALLICENCE 700 1- Amouri Ali Centre Hospitalo-Universitaire Habib Bourguiba, Sfax, Tunisia aut NATIONALLICENCE 700 1- Ayadi Lobna Centre Hospitalo-Universitaire Habib Bourguiba, Sfax, Tunisia aut NATIONALLICENCE 700 1- Khabir Abdelmajid Centre Hospitalo-Universitaire Habib Bourguiba, Sfax, Tunisia aut NATIONALLICENCE 700 1- Ellouze Sameh Centre Hospitalo-Universitaire Habib Bourguiba, Sfax, Tunisia aut NATIONALLICENCE 700 1- Tahri Nabil Centre Hospitalo-Universitaire Habib Bourguiba, Sfax, Tunisia aut NATIONALLICENCE 700 1- Frikha Mounir Centre Hospitalo-Universitaire Habib Bourguiba, Sfax, Tunisia aut NATIONALLICENCE 700 1- Sellami-Boudawara Tahia Centre Hospitalo-Universitaire Habib Bourguiba, Sfax, Tunisia aut NATIONALLICENCE 700 1- Mokdad-Gargouri Raja Centre de Biotechnologie de Sfax, Route Sidi Mansour, BP «1177», 3038, Sfax, Tunisia aut NATIONALLICENCE 773 0- Familial Cancer Springer Netherlands 10/3(2011-09-01), 567-571 1389-9600 10:3<567 2011 10 10689 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer