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Tooth agenesis, selective, 1(HYD1; STHAG1)

MedGen UID:
483482
Concept ID:
C3489529
Congenital Abnormality
Synonyms: HYPODONTIA/OLIGODONTIA 1; SECOND PREMOLARS AND THIRD MOLARS, ABSENCE OF
 
Gene (location): MSX1 (4p16.2)
 
Monarch Initiative: MONDO:0007129
OMIM®: 106600

Definition

Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene characterized by varying severity of tooth agenesis that may be seen in combination with orofacial clefting in some individuals. [from MONDO]

Clinical features

From HPO
Partial congenital absence of teeth
MedGen UID:
43794
Concept ID:
C0020608
Congenital Abnormality
Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see 114600 and 302400. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978). Genetic Heterogeneity of Selective Tooth Agenesis Other forms of selective tooth agenesis include STHAG2 (602639), mapped to chromosome 16q12; STHAG3 (604625), caused by mutation in the PAX9 gene (167416) on chromosome 14q12; STHAG4 (150400), caused by mutation in the WNT10A gene (606268) on chromosome 2q35; STHAG5 (610926), mapped to chromosome 10q11; STHAG7 (616724), caused by mutation in the LRP6 gene (603507) on chromosome 12p13; STHAG8 (617073), caused by mutation in the WNT10B gene (601906) on chromosome 12q13; STHAG9 (617275), caused by mutation in the GREM2 gene (608832) on chromosome 1q43; STHAG10 (620173), caused by mutation in the TSPEAR gene (612920) on chromosome 21q22; and STHAGX1 (313500), caused by mutation in the EDA gene (300451) on chromosome Xq13. A type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS; 601216). Of 34 unrelated patients with nonsyndromic tooth agenesis, van den Boogaard et al. (2012) found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. Genotype-Phenotype Correlations Yu et al. (2016) observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.

Professional guidelines

PubMed

Schroeder DK, Schroeder MA, Vasconcelos V
Dental Press J Orthod 2022;27(1):e22spe1. Epub 2022 Jun 6 doi: 10.1590/2177-6709.27.1.e22spe1. PMID: 35674572Free PMC Article
Elsherif N, Rodriguez J, Ahmed F
J Orthod 2022 Sep;49(3):332-337. Epub 2021 Dec 14 doi: 10.1177/14653125211065457. PMID: 34903073
Al-Ani AH, Antoun JS, Thomson WM, Merriman TR, Farella M
Biomed Res Int 2017;2017:9378325. Epub 2017 Mar 19 doi: 10.1155/2017/9378325. PMID: 28401166Free PMC Article

Recent clinical studies

Etiology

Doughty F, Pillai S, Hamill D, Amin N, P Ashley M
Br Dent J 2023 Oct;235(7):514-519. doi: 10.1038/s41415-023-6385-5. PMID: 37828193Free PMC Article
Kerekes-Máthé B, Mártha K, Bănescu C, O'Donnell MB, Brook AH
Genes (Basel) 2023 Jan 16;14(1) doi: 10.3390/genes14010231. PMID: 36672972Free PMC Article
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
Schnabl D, Brock M, Puelacher W
Swiss Dent J 2016;126(11):1031-1046. doi: 10.61872/sdj-2016-11-04. PMID: 27874919
Markovic M
Swed Dent J Suppl 1982;15:153-62. PMID: 6963769

Diagnosis

Schroeder DK, Schroeder MA, Vasconcelos V
Dental Press J Orthod 2022;27(1):e22spe1. Epub 2022 Jun 6 doi: 10.1590/2177-6709.27.1.e22spe1. PMID: 35674572Free PMC Article
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
Bergendal B
Am J Med Genet A 2014 Oct;164A(10):2465-71. Epub 2014 Apr 9 doi: 10.1002/ajmg.a.36571. PMID: 24719393
Kavadia S, Papadiochou S, Papadiochos I, Zafiriadis L
Orthodontics (Chic.) 2011 Winter;12(4):296-317. PMID: 22299104
Kokich VO Jr, Kinzer GA
J Esthet Restor Dent 2005;17(1):5-10. doi: 10.1111/j.1708-8240.2005.tb00076.x. PMID: 15934680

Therapy

Cerezo-Cayuelas M, Pérez-Silva A, Serna-Muñoz C, Vicente A, Martínez-Beneyto Y, Cabello-Malagón I, Ortiz-Ruiz AJ
Orphanet J Rare Dis 2022 Oct 17;17(1):376. doi: 10.1186/s13023-022-02533-0. PMID: 36253866Free PMC Article
Conti PCR, Bonjardim LR, Stuginski-Barbosa J, Costa YM, Svensson P
J Oral Rehabil 2021 Feb;48(2):195-206. Epub 2020 Oct 26 doi: 10.1111/joor.13112. PMID: 33047362
Marzouk T, Alves IL, Wong CL, DeLucia L, McKinney CM, Pendleton C, Howe BJ, Marazita ML, Peter TK, Kopycka-Kedzierawski DT, Morrison CS, Malmstrom H, Wang H, Shope ET
JDR Clin Trans Res 2021 Oct;6(4):368-381. Epub 2020 Oct 8 doi: 10.1177/2380084420964795. PMID: 33030085Free PMC Article
Filius MAP, Vissink A, Cune MS, Raghoebar GM, Visser A
J Dent 2018 Apr;71:18-24. Epub 2018 Jan 31 doi: 10.1016/j.jdent.2018.01.007. PMID: 29360491
Kiliaridis S, Sidira M, Kirmanidou Y, Michalakis K
Eur J Oral Implantol 2016;9 Suppl 1:S5-24. PMID: 27314109

Prognosis

Robbins JW
Int J Periodontics Restorative Dent 2024 May 24;44(3):250-251. doi: 10.11607/prd.2024.3.e. PMID: 38787712
Priest G
J Esthet Restor Dent 2019 Jul;31(4):311-318. Epub 2019 Apr 29 doi: 10.1111/jerd.12484. PMID: 31033185
Al-Ani AH, Antoun JS, Thomson WM, Merriman TR, Farella M
Biomed Res Int 2017;2017:9378325. Epub 2017 Mar 19 doi: 10.1155/2017/9378325. PMID: 28401166Free PMC Article
Kokich VO Jr, Kinzer GA
J Esthet Restor Dent 2005;17(1):5-10. doi: 10.1111/j.1708-8240.2005.tb00076.x. PMID: 15934680
Kjaer I
Crit Rev Oral Biol Med 1998;9(2):224-44. doi: 10.1177/10454411980090020501. PMID: 9603237

Clinical prediction guides

Robbins JW
Int J Periodontics Restorative Dent 2024 May 24;44(3):250-251. doi: 10.11607/prd.2024.3.e. PMID: 38787712
Kantaputra P, Jatooratthawichot P, Tantachamroon O, Nanekrungsan K, Intachai W, Olsen B, Tongsima S, Ngamphiw C, Cairns JRK
Int Dent J 2023 Feb;73(1):79-86. Epub 2022 May 7 doi: 10.1016/j.identj.2022.04.006. PMID: 35537890Free PMC Article
Al-Ani AH, Antoun JS, Thomson WM, Merriman TR, Farella M
Biomed Res Int 2017;2017:9378325. Epub 2017 Mar 19 doi: 10.1155/2017/9378325. PMID: 28401166Free PMC Article
Fleischmannova J, Matalova E, Tucker AS, Sharpe PT
Eur J Oral Sci 2008 Feb;116(1):1-10. doi: 10.1111/j.1600-0722.2007.00504.x. PMID: 18186725
Kokich VO Jr, Kinzer GA
J Esthet Restor Dent 2005;17(1):5-10. doi: 10.1111/j.1708-8240.2005.tb00076.x. PMID: 15934680

Recent systematic reviews

Mugri MH, Sayed ME, Bhandi S, A Alaqi HA, B Alsubeaie NH, Alsubaie SH, Varadarajan S, Raj AT, Yadalam PK, Khurshid Z, Balaji TM, Patil S
Niger J Clin Pract 2023 Sep;26(9):1215-1225. doi: 10.4103/njcp.njcp_884_22. PMID: 37794532
Minervini G, Franco R, Marrapodi MM, Mehta V, Fiorillo L, Badnjević A, Cervino G, Cicciù M
Medicina (Kaunas) 2023 Mar 28;59(4) doi: 10.3390/medicina59040670. PMID: 37109627Free PMC Article
Cerezo-Cayuelas M, Pérez-Silva A, Serna-Muñoz C, Vicente A, Martínez-Beneyto Y, Cabello-Malagón I, Ortiz-Ruiz AJ
Orphanet J Rare Dis 2022 Oct 17;17(1):376. doi: 10.1186/s13023-022-02533-0. PMID: 36253866Free PMC Article
Fournier BP, Bruneau MH, Toupenay S, Kerner S, Berdal A, Cormier-Daire V, Hadj-Rabia S, Coudert AE, de La Dure-Molla M
J Dent Res 2018 Nov;97(12):1306-1316. Epub 2018 Jun 7 doi: 10.1177/0022034518777460. PMID: 29879364
Kiliaridis S, Sidira M, Kirmanidou Y, Michalakis K
Eur J Oral Implantol 2016;9 Suppl 1:S5-24. PMID: 27314109

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