Oral manifestations of Alagille syndrome.
dentistry and oral medicine
metabolic disorders
Journal
BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291
Informations de publication
Date de publication:
31 May 2020
31 May 2020
Historique:
entrez:
2
6
2020
pubmed:
2
6
2020
medline:
12
1
2021
Statut:
epublish
Résumé
Alagille syndrome (AGS) is a multisystem disorder classically involving liver and heart failure, characteristic vertebral and facial features and ocular abnormalities. AGS is caused by heterozygous mutations in JAG1 or NOTCH2, with variable phenotype penetrance. We report two cases of AGS in children with tooth defects characterised by green discolouration and hypomineralisation. The role of hyperbilirubinaemia (HB) in this atypical colour, a classical feature of AGS, has been well described. However, it does not totally explain the dental phenotype. As JAG1 and NOTCH2 mutations can affect bone development and considering common physiological pathways between bone and tooth mineralisation, both mutations could participate in this unusual dental phenotype. The role of HB and genetics in the development of the dental phenotype of AGS is discussed in two prototypical cases. Future research should focus on the underlying genetic component of tooth abnormalities.
Identifiants
pubmed: 32475824
pii: 13/5/e234689
doi: 10.1136/bcr-2020-234689
pmc: PMC7264826
pii:
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
Références
Am J Clin Nutr. 1990 Aug;52(2):203-8
pubmed: 2375285
Eur J Hum Genet. 2012 Mar;20(3):251-7
pubmed: 21934706
Clin Res Hepatol Gastroenterol. 2012 Jun;36(3):275-7
pubmed: 22521120
J Dent Child (Chic). 2008 Jan-Apr;75(1):91-4
pubmed: 18505656
Am J Med Genet. 2000 Jul 31;93(3):250-2
pubmed: 10925392
Pediatr Radiol. 2002 Feb;32(2):114-9
pubmed: 11819079
Clin Genet. 2012 Jul;82(1):33-40
pubmed: 21752016
J Pediatr Gastroenterol Nutr. 1999 Oct;29(4):431-7
pubmed: 10512403
J Med Genet. 2012 Feb;49(2):138-44
pubmed: 22209762
Nat Rev Nephrol. 2013 Jul;9(7):409-18
pubmed: 23752887
Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2003 Apr;95(4):446-51
pubmed: 12686928
Hepatology. 1999 Mar;29(3):822-9
pubmed: 10051485
Hepatology. 2019 Jan;69(1):245-257
pubmed: 30063078
Bone. 2012 Apr;50(4):989-97
pubmed: 22296718
Am J Hum Genet. 2006 Jul;79(1):169-73
pubmed: 16773578
J Med Genet. 2003 Dec;40(12):891-5
pubmed: 14684686
J Clin Pediatr Dent. 2010 Winter;35(2):199-202
pubmed: 21417125
J Pediatr Gastroenterol Nutr. 2010 Jul;51(1):66-70
pubmed: 20453673
Arch Dis Child. 2007 Mar;92(3):250
pubmed: 17337684
J Clin Pediatr Dent. 2007 Fall;32(1):61-3
pubmed: 18274473
J Clin Exp Dent. 2017 May 1;9(5):e622-e628
pubmed: 28512537
Pediatr Rev. 2012 Jul;33(7):291-302
pubmed: 22753787
J Clin Pediatr Dent. 1993 Fall;18(1):38-42
pubmed: 8110612
Minerva Stomatol. 2005 Oct;54(10):593-600
pubmed: 16224379
Pediatr Dent. 2012 Jul-Aug;34(4):103-6
pubmed: 23014082
Nat Med. 2008 Mar;14(3):306-14
pubmed: 18297083
Clin Liver Dis. 2018 Nov;22(4):625-641
pubmed: 30266153
Adv Dent Res. 2011 Jul;23(3):275-9
pubmed: 21677078
J Oral Pathol Med. 1999 Mar;28(3):128-30
pubmed: 10069541
Neonatal Netw. 2017 Nov 1;36(6):343-347
pubmed: 29185945
Hum Mutat. 2001;17(1):18-33
pubmed: 11139239
Oral Dis. 2018 Jul;24(5):809-819
pubmed: 29316063
Am J Hum Genet. 2010 Feb 12;86(2):229-39
pubmed: 20096396
Bone. 2016 Oct;91:64-74
pubmed: 27416809
J Bone Miner Res. 2017 Jun;32(6):1320-1331
pubmed: 28277610