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Amelogenesis imperfecta type 2

MedGen UID:
97994
•Concept ID:
C0399372
•
Congenital Abnormality
Synonym: Amelogenesis imperfecta hypomaturation type
SNOMED CT: Amelogenesis imperfecta - hypomaturation (109475005); Amelogenesis imperfecta, hypomaturation type (109475005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
X-linked dominant inheritance
MedGen UID:
376232
•Concept ID:
C1847879
•
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
See: This record
Autosomal recessive inheritance (Orphanet)
X-linked dominant inheritance (Orphanet)
 
Related genes: WDR72, ODAPH, SLC24A4, KLK4, MMP20, GPR68
 
Monarch Initiative: MONDO:0015048
Orphanet: ORPHA100033

Term Hierarchy

Professional guidelines

PubMed

AMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta.
Wang SK, Zhang H, Lin HC, Wang YL, Lin SC, Seymen F, Koruyucu M, Simmer JP, Hu JC
Int J Mol Sci 2024 Jun 1;25(11) doi: 10.3390/ijms25116132. PMID: 38892321Free PMC Article
Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra.
Nitayavardhana I, Theerapanon T, Srichomthong C, Piwluang S, Wichadakul D, Porntaveetus T, Shotelersuk V
Mol Genet Genomics 2020 Jul;295(4):923-931. Epub 2020 Apr 3 doi: 10.1007/s00438-020-01668-8. PMID: 32246227
Hypocalcified type of amelogenesis imperfecta in a large family: clinical, radiographic, and histological findings, associated dento-facial anomalies, and resulting treatment load.
Gjørup H, Haubek D, Hintze H, Haukali G, Løvschall H, Hertz JM, Poulsen S
Acta Odontol Scand 2009;67(4):240-7. doi: 10.1080/00016350902973685. PMID: 19452331

Recent clinical studies

Etiology

ENAM Mutations Can Cause Hypomaturation Amelogenesis Imperfecta.
Wang YL, Lin HC, Liang T, Lin JC, Simmer JP, Hu JC, Wang SK
J Dent Res 2024 Jun;103(6):662-671. Epub 2024 May 8 doi: 10.1177/00220345241236695. PMID: 38716742Free PMC Article
Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease.
Gruper Y, Wolff ASB, Glanz L, Spoutil F, Marthinussen MC, Osickova A, Herzig Y, Goldfarb Y, Aranaz-Novaliches G, Dobeš J, Kadouri N, Ben-Nun O, Binyamin A, Lavi B, Givony T, Khalaila R, Gome T, Wald T, Mrazkova B, Sochen C, Besnard M, Ben-Dor S, Feldmesser E, Orlova EM, Hegedűs C, Lampé I, Papp T, Felszeghy S, Sedlacek R, Davidovich E, Tal N, Shouval DS, Shamir R, Guillonneau C, Szondy Z, Lundin KEA, Osicka R, Prochazka J, Husebye ES, Abramson J
Nature 2023 Dec;624(7992):653-662. Epub 2023 Nov 22 doi: 10.1038/s41586-023-06776-0. PMID: 37993717
Investigation of prevalence of dental anomalies by using digital panoramic radiographs.
Bilge NH, Yeşiltepe S, Törenek Ağırman K, Çağlayan F, Bilge OM
Folia Morphol (Warsz) 2018;77(2):323-328. Epub 2017 Sep 21 doi: 10.5603/FM.a2017.0087. PMID: 28933802
Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes.
Prasad MK, Laouina S, El Alloussi M, Dollfus H, Bloch-Zupan A
J Dent Res 2016 Dec;95(13):1457-1463. Epub 2016 Aug 24 doi: 10.1177/0022034516663200. PMID: 27558265
Human genes for dental anomalies.
Kurisu K, Tabata MJ
Oral Dis 1997 Dec;3(4):223-8. doi: 10.1111/j.1601-0825.1997.tb00045.x. PMID: 9643216

Diagnosis

Autoimmune amelogenesis imperfecta in patients with APS-1 and coeliac disease.
Gruper Y, Wolff ASB, Glanz L, Spoutil F, Marthinussen MC, Osickova A, Herzig Y, Goldfarb Y, Aranaz-Novaliches G, Dobeš J, Kadouri N, Ben-Nun O, Binyamin A, Lavi B, Givony T, Khalaila R, Gome T, Wald T, Mrazkova B, Sochen C, Besnard M, Ben-Dor S, Feldmesser E, Orlova EM, Hegedűs C, Lampé I, Papp T, Felszeghy S, Sedlacek R, Davidovich E, Tal N, Shouval DS, Shamir R, Guillonneau C, Szondy Z, Lundin KEA, Osicka R, Prochazka J, Husebye ES, Abramson J
Nature 2023 Dec;624(7992):653-662. Epub 2023 Nov 22 doi: 10.1038/s41586-023-06776-0. PMID: 37993717
Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.
Zhang Z, Zou X, Feng L, Huang Y, Chen F, Sun K, Song Y, Lv P, Gao X, Dong Y, Tian H
BMC Oral Health 2023 Nov 20;23(1):893. doi: 10.1186/s12903-023-03508-8. PMID: 37985977Free PMC Article
Recessive Mutations in ACP4 Cause Amelogenesis Imperfecta.
Kim YJ, Lee Y, Kasimoglu Y, Seymen F, Simmer JP, Hu JC, Cho ES, Kim JW
J Dent Res 2022 Jan;101(1):37-45. Epub 2021 May 26 doi: 10.1177/00220345211015119. PMID: 34036831Free PMC Article
Management guidelines for amelogenesis imperfecta: a case report and review of the literature.
Roma M, Hegde P, Durga Nandhini M, Hegde S
J Med Case Rep 2021 Feb 9;15(1):67. doi: 10.1186/s13256-020-02586-4. PMID: 33557885Free PMC Article
Investigation of prevalence of dental anomalies by using digital panoramic radiographs.
Bilge NH, Yeşiltepe S, Törenek Ağırman K, Çağlayan F, Bilge OM
Folia Morphol (Warsz) 2018;77(2):323-328. Epub 2017 Sep 21 doi: 10.5603/FM.a2017.0087. PMID: 28933802

Therapy

Enamel Renal Gingival Syndrome in an Adolescent.
Koul R, Chengappa D, Mathur VP, Singh TA, Chopra SS
J Dent Child (Chic) 2024 Jan 15;91(1):38-42. PMID: 38671566
Effect of etching on bonding of a self-etch adhesive to dentine affected by amelogenesis imperfecta.
Epasinghe DJ, Yiu CKY
J Investig Clin Dent 2018 Feb;9(1) Epub 2017 Jun 13 doi: 10.1111/jicd.12276. PMID: 28608463
Developmental defects of enamel in primary teeth - findings of a regional German birth cohort study.
Wagner Y
BMC Oral Health 2016 Jul 7;17(1):10. doi: 10.1186/s12903-016-0235-7. PMID: 27430531Free PMC Article
Case series: clinical findings and oral rehabilitation of patients with amelogenesis imperfecta.
Markovic D, Petrovic B, Peric T
Eur Arch Paediatr Dent 2010 Aug;11(4):201-8. doi: 10.1007/BF03262745. PMID: 20840832
The effects of acid-etching on enamel from different clinical variants of amelogenesis imperfecta: an SEM study.
Seow WK, Amaratunge A
Pediatr Dent 1998 Jan-Feb;20(1):37-42. PMID: 9524971

Prognosis

Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.
Zhang Z, Zou X, Feng L, Huang Y, Chen F, Sun K, Song Y, Lv P, Gao X, Dong Y, Tian H
BMC Oral Health 2023 Nov 20;23(1):893. doi: 10.1186/s12903-023-03508-8. PMID: 37985977Free PMC Article
Amelogenesis imperfecta in a Chinese family resulting from a FAM83H variation and the effect of FAM83H on the secretion of enamel matrix proteins.
Xie Y, Meng M, Cao L, Yang J, Ma Q, Huang X, Yu Y, Yang Q, Zou J, Du Q
Clin Oral Investig 2023 Mar;27(3):1289-1299. Epub 2022 Nov 1 doi: 10.1007/s00784-022-04763-9. PMID: 36318336
A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta.
Smith CEL, Whitehouse LLE, Poulter JA, Wilkinson Hewitt L, Nadat F, Jackson BR, Manfield IW, Edwards TA, Rodd HD, Inglehearn CF, Mighell AJ
Hum Mol Genet 2020 Jun 3;29(9):1417-1425. doi: 10.1093/hmg/ddaa041. PMID: 32167558Free PMC Article
Case series: clinical findings and oral rehabilitation of patients with amelogenesis imperfecta.
Markovic D, Petrovic B, Peric T
Eur Arch Paediatr Dent 2010 Aug;11(4):201-8. doi: 10.1007/BF03262745. PMID: 20840832
Human genes for dental anomalies.
Kurisu K, Tabata MJ
Oral Dis 1997 Dec;3(4):223-8. doi: 10.1111/j.1601-0825.1997.tb00045.x. PMID: 9643216

Clinical prediction guides

Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.
Zhang Z, Zou X, Feng L, Huang Y, Chen F, Sun K, Song Y, Lv P, Gao X, Dong Y, Tian H
BMC Oral Health 2023 Nov 20;23(1):893. doi: 10.1186/s12903-023-03508-8. PMID: 37985977Free PMC Article
Amelogenesis imperfecta in a Chinese family resulting from a FAM83H variation and the effect of FAM83H on the secretion of enamel matrix proteins.
Xie Y, Meng M, Cao L, Yang J, Ma Q, Huang X, Yu Y, Yang Q, Zou J, Du Q
Clin Oral Investig 2023 Mar;27(3):1289-1299. Epub 2022 Nov 1 doi: 10.1007/s00784-022-04763-9. PMID: 36318336
WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis.
Zhang H, Koruyucu M, Seymen F, Kasimoglu Y, Kim JW, Tinawi S, Zhang C, Jacquemont ML, Vieira AR, Simmer JP, Hu JCC
J Dent Res 2019 May;98(5):541-548. Epub 2019 Feb 19 doi: 10.1177/0022034518824571. PMID: 30779877Free PMC Article
Developmental biology and genetics of dental malformations.
Hu JC, Simmer JP
Orthod Craniofac Res 2007 May;10(2):45-52. doi: 10.1111/j.1601-6343.2007.00384.x. PMID: 17552940
Human genes for dental anomalies.
Kurisu K, Tabata MJ
Oral Dis 1997 Dec;3(4):223-8. doi: 10.1111/j.1601-0825.1997.tb00045.x. PMID: 9643216

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