Determination of mutation in the coding regions of FAM83H and ENAM genes in patients with imperfect enamel (Amelogenesis Imperfecta)
-
Shamsoulmolouk Najafi
,
Hasan Roudgari
,
Reyhaneh Palizgir
,
Marjan Naderifard
,
Mohammad Erfan Meighani
Abstract
Introduction: Tooth enamel is a precious and highly mineralized tissue in the human body. Amelogenesis Imperfecta (AI) is a developmental, evolutionary and hereditary disease presents with the rare abnormal formation of enamel that affects the primary and secondary dentition. The molecular base of the incomplete quinizium together with clinical manifestation suggest that AI may result from mutations in the FAM83H and ENAM genes. In this study, we aimed to evaluate the association between Amelogenesis Imperfecta and mutations in the FAM83H and ENAM genes in 18 Iranian families with AI in dominant and non-syndromic form. Materials and Methods: 18 Iranian families with at least 1 patient with Amelogenesis Imperfecta were included in this case study and were examined for related specific manifestations and also, 10CC of blood was taken from each patient followed by PCR and genome sequence for genetic alterations in FAM83H and ENAM. Genome sequences were analyzed using CLC software and CLC Sequence Viewer was used to compare them with reference sequences in the RefSeq database at the NCBI later were discussed together with clinical manifestations for each patient. Results: All patients showed a mutation in the exon 5 of FAM83H gene in nucleotide rs56148058C/T which converted Serotonin to Aspartin. In two patients carried a mutation in the nucleotide rs546809055A/G that changed Leucine to Phenylalanine. None of patients showed significant alteration in the ENAM gene. Conclusion: This study indicates that FAM83H gene plays an import role in incidence of Amelogenesis Imperfecta in Iran.
References
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1- Mc DONALD , AVERY DEAN.Dentistry for the child and Adolescent , 9th ed . Elsevier eBook on VitalSource,2011
2- Stephanopoulos G, Garefalaki F, Lyroudia k, Genes and related proteins involved in amylogenesis imperfect , J dent Res. 2005; 84 (12): 1117-23.
3- Kim JW , Kweon YS, Lee KE, Koi J, Jan CCH, James PS , Effects of fam83h overexpression on enamel and dentine formation, ELSEVIER. 2013; 58: 1148-54
4- Dean A , MCDONALD J , VERY’S A , DENTISTRY for the CHILD and ADOLESCENT , 10 th Edition, ELSEVIER; 2016 ; 59-61
5- Hyun HK, Lee SK, Lee KE, Identification of a novel FAM83H mutation and microhardness of an affected molar in autosomal dominant hypo calcified amylogenesis imperfect, Int Endod J. 2009; 42 (11): 1039–43.
6- Bsoul SA, Flint DJ, Terezhalmy GT, Moore WS, Amylogenesis imperfect, Quintessence Int. 2004;35(4):338-9.
7- Wang Xin, Zhao Yuming, Yang Yuan, Man Qin . Novel ENAM and LAMB3 Mutations in Chinese Families with Hypoplastic Amelogenesis Imperfecta, PLoS One. 2015; 10(3): 116-21
8- Purhashemi S J, Ghandehari Motlagh M, Meighani GH, Ebrahimi Takaloo A et al, Missense Mutation in Fam83H Gene in Iranian Patients with Amelogenesis Imperfecta. Iran J Public Health. 2014; 43(12): 1680–7
9- Lee SK, Jan C CH ,Bartlett J D, Lee KE, Brent PL , James PS , Kim JW, Mutational Spectrum of FAM83H: The C-Terminal Portion is Required for Tooth Enamel Calcification, Mutation Brief .2008 ;1014(29):95-9
10- Wright JT, Torain.K L M, Kim S Crawford M J , Aldred P, HartS, Tom C. H, Amelogenesis Imperfecta: Genotype-Phenotype Studies in 71 Families, Cells Tiss Org. 2011; 194(2-4): 279–83
11- Martelli Ju , Bonan PR , Dos Santos, LA ,SantosSM , Cavalcanti MG, Coletta RD, Case reports of a new syndrome associating gingival fibromatosis and dental
abnormalities in a consanguineous family, J Periodontol. 2008; 79: 1287–96
12- Kim YJ, Kim YJ, Kang J, Shin TJ, Hyun HK, Lee SH, Lee ZH, Kim JW, A novel AMELX mutation causes hypoplastic amelogenesis imperfect, Arch Oral Biol. 2017;76:61-5
13- El-Sayed, W., Shore, R. C., Parry, D. A., Inglehearn, C. F., & Mighell, A. J. Ultrastructural analyses of deciduous teeth affected by hypocalcified amelogenesis imperfecta from a family with a novel Y458X FAM83H nonsense mutation. Cells Tissues Organs2010, 191(3), 235-9
14- Mendoza G, Pemberton TJ, Lee K, Scarel‐Caminaga R, Mehrian‐Shai R, Gonzalez‐Quevedo C, A new locus for autosomal dominant amelogenesis imperfecta on chromosome 8q24.3,Hum Genet 2007 ; 120:653–62.
15- Song YL, Wang N, Zhang CZ, Yang K, Bian Z, Molecular characterization of amelogenesis imperfecta in Chinese patients, Cells Tissues Organs 2012; 196:271–9.
16- Ding Y, Estrella M, Hu Y, Chan H , Zhang H, Kim J, Fam83h is associated with intracellular vesicles and ADHCAI, J Dent Res. 2009 ;88:991–6 .
17-Urzúa, B, Martínez, C , Ortega PA , Adorno D, Morales Bozo IR, ,Reyes G M , Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel, J Arc oral bio 2015; 60(9), 1356-67.
18- Wang Xin, Zhao Yuming, Yang Yuan, Man Qin . Novel ENAM and LAMB3 Mutations in Chinese Families with Hypoplastic Amelogenesis Imperfecta. PLoS One. 2015; 10(3): 0116514
19- HAUBEK D, HANSG J,. LILLIAN GJ, INGER J, NYEGAARD M, ANDERS D, BORGLUM S P, Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation, J Int Paed Dens 2011;21:407-12
20- Kim J, Lee K, Lee H, FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfect, Am J Hum Genet2008 ; 82 (2): 489–94.
21- Chan H C, Estrella NM RP, Milkovich R N, Kim JW, Simmer J PH, Jan CC, Target gene analyses of 39 amelogenesis imperfecta kindreds . Eur J Oral Sci. 2011; 119(1): 311–23
22- Simmer SG, Estrella NM, Milkovich RN, Hu JC, Autosomal dominant amelogenesis imperfecta associated with ENAM frameshift mutation p.Asn36Ilefs56, Clin Genet, 2013 ; 83:195-7.
| Files | ||
| Issue | Vol 7, No 3 (Summer 2020) | |
| Section | Original Article(s) | |
| DOI | https://doi.org/10.18502/jcr.v7i3.5282 | |
| Keywords | ||
| Amelogenesis imperfecta; Gene mutation; FAM83H; ENAM. | ||
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Najafi S, Roudgari H, Palizgir R, Naderifard M, Meighani ME. Determination of mutation in the coding regions of FAM83H and ENAM genes in patients with imperfect enamel (Amelogenesis Imperfecta). J Craniomaxillofac Res. 2020;7(3):126-131.
