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Background  The purpose of our study was to investigate the potential contribution of germline mutations in  NOTCH1 ,  GATA5  and  TGFBR1  and  TGFBR2  genes in a cohort of Italian patients with familial Bicuspid Aortic Valve (BAV).    Methods  All the coding exons including adjacent intronic as well as 5 ′  and 3 ′  untranslated (UTR) sequences of  NOTCH1 ,  GATA5 ,  TGFBR1  and  TGFBR2  genes were screened by direct gene sequencing in 11 index patients (8 males; age = 42 ± 19 years) with familial BAV defined as two or more affected members.    Results  Two novel mutations, a missense and a nonsense mutation (Exon 5, p.P284L; Exon 26, p.Y1619X), were found in the  NOTCH1  gene in two unrelated families. The mutations segregated with the disease in these families, and they were not found on 200 unrelated chromosomes from ethnically matched controls. No pathogenetic mutation was identified in  GATA5 ,  TGFBR1  and  TGFBR2  genes.    Conclusions  Two novel  NOTCH1  mutations were identified in two Italian families with BAV, highlighting the role of a  NOTCH1  signaling pathway in BAV and its aortic complications. These findings are of relevance for genetic counseling and clinical care of families presenting with BAV. Future studies are needed in order to unravel the still largely unknown genetics of BAV.

Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2genes in familial cases of bicuspid aortic valve