Clinical and genetic characteristics of a large cohort of children with Alagille syndrome: identification of 57 new variants in the JAG1 gene

Fischetto R, Palmieri VV, Tripaldi ME, Gaeta A, Michelucci A, Delvecchio M, et al. Alagille syndrome: a novel mutation in JAG1 gene. Front Pediatr. 2019;7:199.

Article  PubMed  PubMed Central  Google Scholar 

Saleh M, Kamath BM, Chitayat D. Alagille syndrome: clinical perspectives. Appl Clin Genet. 2016;9:75–82.

Article  PubMed  PubMed Central  Google Scholar 

Kamath BM, Baker A, Houwen R, Todorova L, Kerkar N. Systematic review: the epidemiology, natural history, and burden of alagille syndrome. J Pediatr Gastroenterol Nutr. 2018;67:148–56.

Article  PubMed  PubMed Central  Google Scholar 

Schonfeld EA, Brown RS. Genetic causes of liver disease: when to suspect a genetic etiology, initial lab testing, and the basics of management. Med Clin N Am. 2019;103:991–1003.

Article  PubMed  Google Scholar 

Menon J, Shanmugam N, Vij M, Rammohan A, Rela M. Multidisciplinary management of Alagille syndrome. J Multidiscip Health. 2022;15:353–64.

Article  Google Scholar 

Eiamkulbutr S, Tubjareon C, Sanpavat A, Phewplung T, Srisan N, Sintusek P. Diseases of bile duct in children. World J Gastroenterol. 2024;30:1043–72.

Article  PubMed  PubMed Central  Google Scholar 

Hankeova S, Van Hul N, Laznovsky J, Verboven E, Mangold K, Hensens N, et al. Sex differences and risk factors for bleeding in Alagille syndrome. EMBO Mol Med. 2022;14:e15809.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Semenova N, Kamenets E, Annenkova E, Marakhonov A, Gusarova E, Demina N, et al. Clinical characterization of alagille syndrome in patients with cholestatic liver disease. Int J Mol Sci. 2023;24:11758.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Grochowski CM, Loomes KM, Spinner NB. Jagged1 (JAG1): structure, expression, and disease associations. Gene. 2016;576:381–4.

Article  CAS  PubMed  Google Scholar 

Wang H, Wang X, Li Q, Chen S, Liu L, Wei Z, et al. Analysis of JAG1 gene variant in Chinese patients with Alagille syndrome. Gene. 2012;499:191–3.

Article  CAS  PubMed  Google Scholar 

Gilbert MA, Bauer RC, Rajagopalan R, Grochowski CM, Chao G, McEldrew D, et al. Alagille syndrome mutation update: comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification. Hum Mutat. 2019;40:2197–220.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Turnpenny PD, Ellard S. Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet. 2012;20:251–7.

Article  CAS  PubMed  Google Scholar 

Qin L, Wang J, Tian X, Yu H, Truong C, Mitchell JJ, et al. Detection and quantification of mosaic mutations in disease genes by next-generation sequencing. J Mol Diagn. 2016;18:446–53.

Article  CAS  PubMed  Google Scholar 

Röpke A, Kujat A, Gräber M, Giannakudis J, Hansmann I. Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome. Hum Mutat. 2003;21:100.

Article  PubMed  Google Scholar 

Jaganathan K, Panagiotopoulou SK, McRae JF, Darbandi SF, Knowles D, Li YI, et al. Predicting Splicing from Primary Sequence with Deep Learning. Cell. 2019;176:535–48:e24.

Leman R, Parfait B, Vidaud D, Girodon E, Pacot L, Le Gac G, et al. SPiP: splicing prediction pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing. Hum Mutat. 2022;43:2308–23.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cheng J, Nguyen TYD, Cygan KJ, Çelik MH, Fairbrother WG, Avsec Ž, et al. MMSplice: modular modeling improves the predictions of genetic variant effects on splicing. Genome Biol. 2019;20:48.

Article  PubMed  PubMed Central  Google Scholar 

Yeo G, Burge CB. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol. 2004;11:377–94.

Article  CAS  PubMed  Google Scholar 

Kohut TJ, Gilbert MA, Loomes KM. Alagille syndrome: a focused review on clinical features, genetics, and treatment. Semin Liver Dis. 2021;41:525–37.

Article  PubMed  Google Scholar 

Ayoub MD, Bakhsh AA, Vandriel SM, Keitel V, Kamath BM. Management of adults with Alagille syndrome. Hepatol Int. 2023;17:1098–112.

Article  PubMed  PubMed Central  Google Scholar 

Ayoub MD, Kamath BM. Alagille syndrome: diagnostic challenges and advances in management. Diagnostics. 2020;10:907.

Article  CAS  PubMed  PubMed Central  Google Scholar 

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