-
Pediatrics International : Official... Jan 2022
Topics: Alagille Syndrome; Calcium-Binding Proteins; Coronary Angiography; Humans; Jagged-1 Protein; Membrane Proteins
PubMed: 35522568
DOI: 10.1111/ped.15186 -
Seminars in Ophthalmology 2007Alagille syndrome is an autosomal dominant disorder caused by mutations in the JAG1 gene. The JAG1 gene encodes a ligand for the Notch receptor and thus is part of a... (Review)
Review
Alagille syndrome is an autosomal dominant disorder caused by mutations in the JAG1 gene. The JAG1 gene encodes a ligand for the Notch receptor and thus is part of a critical signaling pathway during development. The ophthalmologist can play an important role in the diagnosis of Alagille syndrome by identifying the characteristic ocular findings. These include a posterior embryotoxon, optic disc drusen, angulated retinal vessels, and a pigmentary retinopathy. Despite recent advances in the genetics of Alagille syndrome, the correlations between genotypes and phenotypes remain incompletely defined.
Topics: Alagille Syndrome; Anterior Eye Segment; Calcium-Binding Proteins; Eye Abnormalities; Humans; Intercellular Signaling Peptides and Proteins; Jagged-1 Protein; Ligands; Membrane Proteins; Mutation; Optic Disk; Receptor, Notch1; Retinitis Pigmentosa; Serrate-Jagged Proteins; Signal Transduction
PubMed: 18097983
DOI: 10.1080/08820530701745108 -
Annales de Biologie Clinique Jun 2019
Topics: Alagille Syndrome; Humans; Hyponatremia; Lipoprotein-X
PubMed: 31021323
DOI: 10.1684/abc.2019.1437 -
Journal of Medical Genetics Apr 1995Alagille syndrome (AGS) is one of the major forms of chronic liver disease in childhood with severe morbidity and a mortality of 10 to 20%. It is characterised by...
Alagille syndrome (AGS) is one of the major forms of chronic liver disease in childhood with severe morbidity and a mortality of 10 to 20%. It is characterised by cholestasis of variable severity with paucity of interlobular bile ducts and anomalies of the cardiovascular system, skeleton, eyes, and face. Previous studies suggest a wide variation in the expression of the disease and a high incidence of new mutations. To determine more accurately the rate of new mutations and to develop criteria for detecting the disorder in parents we systematically investigated parents in 14 families with an affected child. Clinical examination was supplemented by liver function tests, echocardiography, radiographic examination of the spine and forearm, ophthalmological assessment, and chromosome analysis. Six parents had typical anomalies in two or more systems pointing to the presence of autosomal dominant inheritance. Systematic screening of parents for the features defined in this study should improve the accuracy of genetic counselling.
Topics: Abortion, Spontaneous; Alagille Syndrome; Child; Family Health; Fathers; Female; Genes, Dominant; Heterozygote; Humans; Male; Mothers; Pedigree; Pregnancy; Severity of Illness Index
PubMed: 7643353
DOI: 10.1136/jmg.32.4.264 -
Optometry and Vision Science : Official... Feb 2021Alagille syndrome is rare genetic disease, which affects liver and heart function. Cases are frequently diagnosed late, and a complete ocular examination aids in the...
SIGNIFICANCE
Alagille syndrome is rare genetic disease, which affects liver and heart function. Cases are frequently diagnosed late, and a complete ocular examination aids in the diagnosis. Although ophthalmic manifestations are usually benign, occasionally, sight-threatening complications occur.
PURPOSE
The case presented herein highlights a rare condition, which usually can be diagnosed by the ophthalmological findings. However, in this particular case report, the complication of angioid streaks and choroidal neovascularization is reported for the first time in Alagille syndrome.
CASE REPORT
Α 32-year-old woman diagnosed with Alagille syndrome presented with diminution of vision in the left eye. The cause was choroidal neovascularization related to angioid streaks. She was treated with intravitreal injections of ranibizumab but developed an extensive macular scar. A few years later, she developed the same complication in the right eye and was treated similarly.
CONCLUSIONS
Alagille syndrome has many ophthalmic manifestations, most of them benign with minimal threat to vision. Herein for the first time, we present a case of Alagille syndrome with angioid streak-related choroidal neovascularization, which resulted in severe vision loss.
Topics: Adult; Alagille Syndrome; Angiogenesis Inhibitors; Angioid Streaks; Choroidal Neovascularization; Female; Fluorescein Angiography; Humans; Intravitreal Injections; Ranibizumab; Tomography, Optical Coherence; Vascular Endothelial Growth Factor A
PubMed: 33617169
DOI: 10.1097/OPX.0000000000001641 -
Ryoikibetsu Shokogun Shirizu 1996
-
Gastroenterology May 1999
Topics: Alagille Syndrome; Animals; Calcium-Binding Proteins; Gene Expression Regulation, Developmental; Humans; Intercellular Signaling Peptides and Proteins; Membrane Proteins; Proteins; Receptors, Notch; Serrate-Jagged Proteins; Signal Transduction
PubMed: 10220521
DOI: 10.1016/s0016-5085(99)70032-6 -
Current Opinion in Pediatrics Dec 1999Alagille syndrome (AGS) is a dominantly inherited disorder characterized by bile duct paucity and resultant liver disease in combination with cardiac, skeletal, ocular,... (Review)
Review
Alagille syndrome (AGS) is a dominantly inherited disorder characterized by bile duct paucity and resultant liver disease in combination with cardiac, skeletal, ocular, and facial abnormalities. Jagged1 (JAG1) has been identified as the AGS disease gene. It encodes a ligand in the Notch signaling pathway that is involved in cell fate determination. AGS is the first developmental disorder to be associated with this pathway. It shows highly variable expressivity, and diagnosis in mildly affected persons can be difficult without molecular analysis. Currently, JAG1 mutations are detected in about 70% of patients with AGS and include total gene deletions as well as protein truncating, splicing, and missense mutations. Mutations are located across the gene within the evolutionarily conserved motifs of the protein. There is no phenotypic difference between patients with deletion of the entire JAG1 gene and those with intragenic mutations. This suggests that haploinsufficiency for JAG1 is a mechanism causing AGS.
Topics: Alagille Syndrome; Calcium-Binding Proteins; Child; Eye Diseases; Gene Deletion; Heart Diseases; Humans; Intercellular Signaling Peptides and Proteins; Jagged-1 Protein; Membrane Proteins; Mutation; Proteins; Serrate-Jagged Proteins; Signal Transduction
PubMed: 10590916
DOI: 10.1097/00008480-199912000-00015 -
Skeletal Radiology Aug 2003We report a case of Alagille syndrome (arteriohepatic dysplasia) with the unusual radiological abnormality of synostosis of the proximal portions of the radius and ulna... (Review)
Review
We report a case of Alagille syndrome (arteriohepatic dysplasia) with the unusual radiological abnormality of synostosis of the proximal portions of the radius and ulna bilaterally, a manifestation which, to our knowledge, has not previously been described in a specific patient in the English language literature. We also describe additional features of the syndrome in the same patient and review the published literature on radiological manifestations of this condition.
Topics: Adult; Alagille Syndrome; Female; Humans; Radiography; Radius; Synostosis; Ulna
PubMed: 12802522
DOI: 10.1007/s00256-003-0651-z -
Revista Espanola de Cirugia Ortopedica... 2016Alagille's syndrome is an infrequent genetic condition with autosomal inheritance and variable expression. The complete form exhibits 5 clinical signs, chronic... (Review)
Review
Alagille's syndrome is an infrequent genetic condition with autosomal inheritance and variable expression. The complete form exhibits 5 clinical signs, chronic intrahepatic cholestasis, characteristic facies, cardiovascular anomalies, posterior embryotoxon, and vertebral defects. If only 3 or 4 of these are present the case is considered as an incomplete form. The association of Alagille's syndrome with radio-ulnar synostosis is extremely rare. There is only one case described in the indexed literature. A case is presented of Alagille's syndrome with bilateral proximal radioulnar synostosis. To the best of our knowledge this is the second reported case of this association.
Topics: Alagille Syndrome; Child, Preschool; Humans; Male; Radius; Synostosis; Ulna
PubMed: 25037110
DOI: 10.1016/j.recot.2014.05.007