International Journal of Gastroenterology and Hepatology (ISSN: 2995-2301) | Volume 3, Issue 1 | Case Report | Open Access
Narmin Zoabi*
1Liver diseases Center, Sheba Medical Center, Ramat Gan, Israel
2Sackler School of Medicine, Tel Aviv University, Israel
3Hadassah Medical Center, Jerusalem, Israel
*Correspondence to: Narmin Zoabi
Fulltext PDFAlagille syndrome (ALGS) is a rare multisystem genetic disorder that presents with various clinical features, including liver disease.
This disorder is caused by mutations in JAG1 or NOTCH2 gene. However, NOTCH2 mutations are rarely found in Alagille patients. Little is known about the clinical and pathological profiles of patients with NOTCH2 mutations in Alagille.
Herein, we present a patient diagnosed with atypical Alagille syndrome. Following sequencing, a novel variant in NOTCH2, NM_024408.4 (c.6143A>T, p. Asp2048VaL), was identified.
This report highlights the importance of genetic testing in the diagnosis of this condition and the need to increase suspicion of the disease in atypical young patient's presentation of ALGS.
Alagille syndrome; NOTCH2; JAG1
Narmin Zoabi, Vardiella Meiner, Ziv Ben-Ari. A Newly Discovered Mutation in The NOTCH2 Gene and Atypical Presentation of Alagille Syndrome. Int Jour Gastro Hepat. 2024;3(1):1-4.