Novel and recurrent JAG1 mutations in patients with tetralogy of Fallot
| Autor: | M. C. Digilio, Emanuele Bellacchio, G Usala, Rita Mingarelli, Rosangela Ferese, C Iannascoli, M Uda, Giovanni Battista Maestrale, Valentina Guida, F Chiappe, Bruno Dallapiccola, Bruno Marino, A. De Luca |
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| Rok vydání: | 2011 |
| Předmět: |
Heart Defects
Congenital Male Pathology medicine.medical_specialty JAG1 Heart disease Mutation Missense Disease Biology medicine.disease_cause Alagille syndrome Genetics medicine Humans Missense mutation Serrate-Jagged Proteins Genetics (clinical) Tetralogy of Fallot Mutation Calcium-Binding Proteins Membrane Proteins medicine.disease Intercellular Signaling Peptides and Proteins Jagged-1 Protein Female |
| Zdroj: | Clinical Genetics. 80:591-594 |
| ISSN: | 0009-9163 |
| DOI: | 10.1111/j.1399-0004.2011.01710.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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