ArticleAmerican journal of medical genetics. Part A2012
Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features.
Article in American journal of medical genetics. Part A, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 37 citations in OpenAlex.
- Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome.BMC pediatrics · 2024Article
- Association of Very RareGenes · 2024Article
- Two unrelated Alagille syndrome cases of South Indian origin: Showing multi-exonic deletion and a novel mutation inGenes & diseases · 2024Article
- Different clinical and genetic features of Alagille patients with progressive diseaseJGH open : an open access journal of gastroenterology and hepatology · 2022Article
- Pathogenic Novel Heterozygous Variant c.1076c>T p. (Ser359Phe) chr1: 120512166 in NOTCH2 Gene, Type 2 Alagille Syndrome Causing Neonatal Cholestasis: A Case Report.The American journal of case reports · 2022Article
- Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.Investigative ophthalmology & visual science · 2021Observational
- NovelInternational journal of molecular sciences · 2019Article
- Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification.Human mutation · 2019Article
- A case of Alagille syndrome presenting with chronic cholestasis in an adult.Clinical and molecular hepatology · 2017Article
- [Identification of a novel JAG1 mutation in a family affected by Alagille syndrome].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2016Article
- Alagille syndrome: clinical perspectives.The application of clinical genetics · 2016Review
- Alagille syndrome and a JAG1 mutation: 41 cases of experience at a single center.Korean journal of pediatrics · 2015Article
- JAGGED1 gene variations in Chinese twin sisters with Alagille syndrome.International journal of clinical and experimental pathology · 2015Article
- Spectrum of JAG1 gene mutations in Polish patients with Alagille syndrome.Journal of applied genetics · 2014Article
- Alagille Syndrome and the Liver: Current Insights.Euroasian journal of hepato-gastroenterologyReview
- Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey.In vivo (Athens, Greece)Article
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Authors and funding
9 authors at 3 institutions in 3 countries.
Funding
Abstract
Alagille syndrome (ALGS, OMIM #118450) is an autosomal dominant disorder that affects multiple organ systems including the liver, heart, eyes, vertebrae, and face. ALGS is caused by mutations in one of two genes in the Notch Signaling Pathway, Jagged1 (JAG1) or NOTCH2. In this study, analysis of 21 Vietnamese ALGS individuals led to the identification of 19 different mutations (18 JAG1 and 1 NOTCH2), 17 of which are novel, including the third reported NOTCH2 mutation in Alagille Syndrome. The spectrum of JAG1 mutations in the Vietnamese patients is similar to that previously reported, including nine frameshift, three missense, two splice site, one nonsense, two whole gene, and one partial gene deletion. The missense mutations are all likely to be disease causing, as two are loss of cysteines (C22R and C78G) and the third creates a cryptic splice site in exon 9 (G386R). No correlation between genotype and phenotype was observed. Assessment of clinical phenotype revealed that skeletal manifestations occur with a higher frequency than in previously reported Alagille cohorts. Facial features were difficult to assess and a Vietnamese pediatric gastroenterologist was only able to identify the facial phenotype in 61% of the cohort. To assess the agreement among North American dysmorphologists at detecting the presence of ALGS facial features in the Vietnamese patients, 37 clinical dysmorphologists evaluated a photographic panel of 20 Vietnamese children with and without ALGS. The dysmorphologists were unable to identify the individuals with ALGS in the majority of cases, suggesting that evaluation of facial features should not be used in the diagnosis of ALGS in this population. This is the first report of mutations and phenotypic spectrum of ALGS in a Vietnamese population.
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