Alagille syndrome and deletion of 20p.

Anad, F.; Burn, John; Matthews, Daniel G.; Cross, IE; Davison, B. C. C.; Mueller, Rebecca; Sands, Maura; Lillington, Debra M.; Eastham, E J

doi:10.1136/jmg.27.12.729

Cited by 94 publications

(46 citation statements)

References 13 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Thus, all putative truncated proteins should lack the transmembrane domain, and should lose their entire function as a ligand for the Notch receptor. Although we could not identify any chromosomal deletion by FISH analysis, AGS patients with large deletions, including the entire JAG1 genomic region, have been reported (Anad et al 1990).…”

Section: Discussionmentioning

confidence: 97%

Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome

et al. 1999

View full text Add to dashboard Cite

Alagille syndrome (AGS) is a congenital anomaly syndrome that affects liver, heart, pulmonary artery, eyes, face, and skeleton. Recently, mutations of the JAG1 gene, which encodes a ligand for the Notch receptor, have been identified in AGS patients. We investigated the JAG1 gene for genetic alterations in eight Japanese AGS patients, using fluorescence in situ hybridization (FISH), single strand conformation polymorphism (SSCP) analysis, and direct sequencing. Subtle genetic alterations were identified in six of the eight patients, including three frameshift mutations, two splice donor mutations, and one nonsense mutation. All alleles with identified mutations can be expected to produce non-functional truncated proteins without a transmembrane domain. There was no apparent correlation between the genotypes of the patients and their affected organs, although the phenotypes of the patients with mutations at the splice donor site were found to be less severe.

show abstract

Section: Discussionmentioning

confidence: 97%

Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome

et al. 1999

View full text Add to dashboard Cite

show abstract

“…CHD often occurs within the context of syndromes, and molecular analysis of familial syndromic disorders has identified several disease-causing genes such as TBX5 for Holt-Oram syndrome or JAG1 in Alagille syndrome (Table 8). 313,333 Large families with the Holt-Oram phenotype permitted parametric linkage analyses and the subsequent identification of a disease gene, TBX5; 334 Visible chromosomal changes on a karyotype in a subset of cases with Alagille syndrome pointed to a disease locus on chromosome 20p12, 335 and subsequent positional cloning and sequencing efforts identified mutations in JAG1, a ligand in the Notch signaling pathway. 310,311 Originally defined by interlobular bile duct paucity, CHD, vertebral and ocular anomalies, and dysmorphic features, Alagille syndrome characterized by JAG1 mutations is now recognized to display marked phenotypic variability.…”

Section: Congenital Heart Diseasementioning

confidence: 99%

Genetics and Genomics for the Prevention and Treatment of Cardiovascular Disease: Update

Ganesh¹,

Arnett²,

Assimes³

et al. 2013

Circulation

View full text Add to dashboard Cite

“…In this questionnaire all five major symptoms and some minor features and their severity were asked for and were stated as present (+) or absent (7). In case no information could be provided the respective feature was ticked as not reported (NR).…”

Section: Ags Patientsmentioning

confidence: 99%

Parental mosaicism of JAG1 mutations in families with Alagille syndrome

et al. 2001

View full text Add to dashboard Cite

The Alagille syndrome (AGS), a congenital disorder affecting liver, heart, skeleton and eye in association with a typical face, is an autosomal dominant disease with nearly complete penetrance and variable expression. AGS is caused by mutations in the developmentally important JAG1 gene. In our mutation screening, where 61 mutations in JAG1 were detected, we identified five cases where mosaicism is present. Our results point to a significant frequency of mosaicism for JAG1 mutations in AGS of more than 8.2%. Because mosaicism may be associated with a very mild phenotype, the appropriate diagnosis of AGS and consequently the determination of the recurrence risk can be complicated.

show abstract

Alagille syndrome and deletion of 20p.

Cited by 94 publications

References 13 publications

Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome

Genetic alterations in the JAG1 gene in Japanese patients with Alagille syndrome

Genetics and Genomics for the Prevention and Treatment of Cardiovascular Disease: Update

Parental mosaicism of JAG1 mutations in families with Alagille syndrome

Contact Info

Product

Resources

About