Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic
Abstract
:1. Introduction
2. Material and Methods
Mutation Analysis
3. Results
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Acknowledgments
Conflicts of Interest
Abbreviations
ALGS | Alagille syndrome |
ALGS1 | Alagille syndrome type 1 |
ALGS2 | Alagille syndrome type 2 |
References
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Patient | Diagnosis | Peculiar | Cholestasis | Liver Biopsy | Heart Disease | Ocular | Skeletal | Renal | Others |
---|---|---|---|---|---|---|---|---|---|
Age | Face | Anomalies | Anomalies | Anomalies | |||||
1 | 16 month | yes | yes | intrahepatic bile duct | peripheral pulmonary | no | butterfly | no | learning disability |
paucity | artery stenosis | vertebrae | |||||||
2 | 6 years | yes | yes | intrahepatic bile duct | peripheral pulmonary | no | no | no | |
paucity | artery stenosis | ||||||||
3 | 7 month | yes | yes | intrahepatic bile duct | peripheral pulmonary | no | no | ren | behavioral disorders |
paucity | artery stenosis | arcuatus | |||||||
4 | 3 month | yes | yes | intrahepatic bile duct | peripheral pulmonary | embryotoxon | rib | cystic | hypothyroidism |
paucity | artery stenosis | posterior | anomalies | disease | growth retardation |
Patient | Identified Sequence Variants | Mutation | Exon | cDNA | Protein | Mutation | Reference |
---|---|---|---|---|---|---|---|
Origin | Type | ||||||
1 | gene JAG1 (NM_000214.2):c.3189dupG in heterozygous state | not investigated | 25 | c.3189dupG | p.Asn1064Glufs*45 | frameshift | this study |
novel, duplication | |||||||
2 | gene JAG1(NM_000214.2): c.2039delG in heterozygous state | mother | 16 | c.2039delG | p.Gly680Alafs*63 | frameshift | Gilbert et al., 2019 [19] |
deletion | |||||||
3 | gene JAG1 (NM_000214.2):c.1913delG in heterozygous state | father | 15 | c.1913delG | p.Cys638Leufs*105 | frameshift | this study |
novel, deletion | |||||||
4 | gene JAG1 (NM_000214.2):c.2230C>T p.(Arg744Ter) in heterozygous state | de novo | 18 | c.2230C>T | p.Arg744Ter | nonsense | Krantz et al, 1998 [3] |
substitution |
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Procházková, D.; Borská, R.; Fajkusová, L.; Konečná, P.; Hloušková, E.; Pavlovský, Z.; Slabý, O.; Pospíšilová, Š. Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic. Diagnostics 2021, 11, 983. https://doi.org/10.3390/diagnostics11060983
Procházková D, Borská R, Fajkusová L, Konečná P, Hloušková E, Pavlovský Z, Slabý O, Pospíšilová Š. Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic. Diagnostics. 2021; 11(6):983. https://doi.org/10.3390/diagnostics11060983
Chicago/Turabian StyleProcházková, Dagmar, Romana Borská, Lenka Fajkusová, Petra Konečná, Eliška Hloušková, Zdeněk Pavlovský, Ondřej Slabý, and Šárka Pospíšilová. 2021. "Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic" Diagnostics 11, no. 6: 983. https://doi.org/10.3390/diagnostics11060983
APA StyleProcházková, D., Borská, R., Fajkusová, L., Konečná, P., Hloušková, E., Pavlovský, Z., Slabý, O., & Pospíšilová, Š. (2021). Two Novel Mutations in the JAG1 Gene in Pediatric Patients with Alagille Syndrome: The First Case Series in Czech Republic. Diagnostics, 11(6), 983. https://doi.org/10.3390/diagnostics11060983