Guida, V. and Chiappe, Francesca and Ferese, R. and Usala, Gianluca and Maestrale, Giovanni Battista and Iannascoli, Chiara and Bellacchio, Emanuele and Mingarelli, Rita and Digilio, Maria Cristina and Marino, Bruno and Uda, Manuela and De Luca, Alessandro and Dallapiccola, Bruno (2011) Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot. Clinical Genetics, Vol. 80 (6), p. 591-594. eISSN 1399-0004. Article.
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Tetralogy of Fallot (TOF) (MIM #187500) is a congenital heart disease (CHD) observed in 7–13% of individuals affected by Alagille syndrome (ALGS; MIM #118450) (1, 2), an autosomal dominant disorder characterized by abnormalities of liver, heart, skeleton, eye and distinct facial features. ALGS is predominantly caused by mutations in JAGGED1 (JAG1; MIM +601920) gene (3, 4), but individuals with JAG1 mutations may also have apparently non-syndromic cardiac disease (5–8). In this study, we used denaturing high-performance liquid chromatography to analyze for mutations the entire coding region of the JAG1 gene (RefSeq: NM_000214.2) in 112 non-syndromic patients with TOF and 11 patients with TOF and multiple anomalies in the setting of an unidentifiable syndrome.
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