Table I.

MEDLINE (PubMed) returned results on AXIN2 mutations and oligodontia.

	Author, year	Title	Citations	Location	Study type/study design	Number in study/age	Ethics Committee approval statement	Consent or assent	Journal guidance in reporting consent or ethical statement
1	Mu YD, Contreras Cl, McDaniel JS, Donly KJ, Chen S. 2013	Mutational analysis of AXIN2, MSXI, and PAX9 in two Mexican oligodontia families 10.4238/20l3,October.l0.10 Genetics and Molecular Research	7	U.S. (Families attended Texas Health Science Center)	Phenotypic and genotype description of the cases Bioinformatics analysis DNA sequencing analysis Primary data collection Case examined for descriptives with AXIN2 variation	8 pediatric patients Ages not provided (2 families with oligodontia)	Not stated	Assumed and not stated (NIH grant funding requirement)	Not mentioned
2	Bergenda B, Klar J, Stecksen-Blicks C, Norderyd J, Dahl N. 2011	• Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSXI, and PAX9 genes 10.1002/ajmg.a.34045 American Journal of Medical Genetics	44	Sweden	Correlation genotype-phenotype with family. Mutation analysis Primary data collection Case examined for descriptives with AXIN2 variation	93 with oligodontia participated Ages 17–30 years	yes	Yes consent	Requires written statements of ethics committee approval and written statement of consent obtained
3	Beard C, Purvis R, Winship IM, Macrae FA, Buchanan DD. 2019	Phenotypic confirmation of oligodontia, colorectal polyposis, and cancer in a family carrying an exon 7 nonsense variant in the AXIN2 gene 10.1007/s10689-019-00120-0 Familial Cancer	9	Australia	Case report Primary data collection Report of association with polyposis or colorectal neoplasia	4 (1 family) Probond age 67 years Family members 40–48 years	no	Yes, verbal consent	Member of COPE. Journal requires written statement of compliance with ethical standards; documentation of compliance must be available upon request.
4	Wang J, Jian F, Chen J, Wang H, Lin Y, Yang Z, Pan X, Lai W. 2011	Sequence analysis of PAX(, MSXI and AXIN2 genes in a Chinese oligodontia family 10.1016/j.archoralbio.2011.03.023 Archives of Oral Biology	13	China	Phenotypic and genotype description of the family Sequence analysis Primary data collection Case examined for descriptives with AXIN2 variation	6 (1 family) Probond age 1 1 Family members were adults	yes	Adult consent and child assent	Requires written statement of following ethical code (Declaration of Helsinki, etc.) and written informed consent was obtained.
5	Koskinen S, Keski-Filppula RK, Alapulli H, Nieminen P, Anttonen V 2019	Familial oligodontia and regional odontodysplasia associated with a PAX9 initiation condon mutation 10.1007/s00784-019-02849-5 Clinical Oral Investigations	1	Finland	Phenotypic and genotype description of the family Mutation analysis Primary data collection Case examined for descriptives with AXIN2 variation	1 family Probond age 6 years Family members were adults	yes	yes	Member of COPE. Journal requires written statement of compliance with ethical standards; documentation of compliance must be available upon request.
6	Liu H, Ding T, Zhan Y, Feng H. 2015	A Novel AXIN2 Missense Mutation is Associated with Non-Syndromic Oligodontia 10.1371/journal.pone.0138221 PLoS One	38	China	Comparison of wild and proband Structural and Conservation analysis Mutation analysis Primary data collection Comparative study of probond and controls	1 probond, age 8 years 100 controls, ages not provided	yes	yes	Member of COPE. Journal requires a written Ethics Statement concerning risks.
7	Wong S, Liu H, Bai B, Chang H, Zhao H, Wang Y, Han D, Feng H. 2014	Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia 10.1016/j.archoralbio.2013.12.009 Archives of Oral Biology	11	China	Phenotypic and genotype description Structure and Conservation analysis Mutation analysis Primary data collection Comparative cross sectional case-control study of those with oligodontia and those without	96 with oligodontia 200 without Ages not provided, however recruitment from prosthodontic clinic	yes	yes	Requires written statements of following ethical code (Declaration of Helsinki, etc.) and written informed consent was obtained.
8	Jensen JM, Sakakkebaek A, Gaustadness M, Sommerlund M, Gjorup H, Ljungmann K, Lautrup CK, Sunde L 2021	Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes? 10.1007/s10689-021-00280-y Familial Cancer	1	DENMARK	Phenotype and genetics Primary data collection Cases examined for association with colorectal cancer	1 family studied Probands, brothers, ages 58 and 56 years 8 carriers 39 in the pedigree	Stated in the article that ethics approval was not needed for the case report	yes	Member of COPE. Journal requires written statement of compliance with ethical standards; documentation of compliance must be available upon request.
9	Chan JM, Clendenning M, Joseland S, Georgeson P, et al. 2021	Rare germline variants in the AXIN2 gene in famiies with colonic polyposis and colorectal cancer 10.1007/s10689-021-00283-9 Familial Cancer	0	AUSTRALIA	Phenotyping Transcriptional analysis Mutational analysis Primary data collection Cases examined for association with polyposis	130 4 families genetics described Mean age 52.5 years	no	no	Member of COPE. Journal requires written statement of compliance with ethical standards; documentation of compliance must be available upon request.
10	Lee KE, Ko J, Shin TJ, Hyun HK, Lee SH, Kim JW. 2014	Oligodontia and curly hair occur with ectodysplasin-mutations 10.1177/0022034514522059 Journal of Dental Research	7	Korea	Mutational analysis Primary data collection Primary data collection Case examined for descriptives with AXIN2 variation	2 families Probonds ages 6 years and 3 years	yes	yes	Requires written statements of ethics committee approval and informed consent.
11	Qin H, Xu H, Xuan K. 2013	Clinical and genetic evaluation of a Chinese family with isolated oligodontia 10.1016/j.archoralbio.2013.04.007 Archives of Oral Biology	1	China	Phenotype Mutation Analysis Primary data collection Case examined for descriptives with AXIN2 variation	1 family Probond age 1 1 years 2 adult family members also affected 6 not 100 unaffected controls	yes	yes	Requires written statement of following ethical code (Declaration of Helsinki, etc.) and written informed consent was obtained.
12	Lindor NM, Win AK, Gallinger S, Daftary D, Thibodeau SN, Silva R, Letra A. 2014	Colorectal cancer and self-reported tooth agenesis. 10.1186/1897-4287-12-7 Heredity Cancer in Clinical Practice	7	US	Survey of colon cancer family registry for missing teeth Assay of 2 probands with colon cancer, tooth agenesis and family members Survey data collected PI had available germline secondary data from recruitment site Cross sectional observational study colorectal cancer v oligodontia	1636 self-reported cases and 2788 self-reported not affected Ages not provided	Not reported But NIH	Not reported But NIH	Requires written statement of ethics committee approval, details that research followed Declaration of Helsinki principles.
13	Arzoo PS, Klar J, Bergendal B, Norderyd J, Dahl N. 2014	WNT10A mutations account for 1/4 of population-based isolated oligodontia and show phenotypic correlations 10.1002/ajmg.a.36243 American Journal of Medical Genetics Part A	23	Sweden	Mutation Analysis Phenotype analysis Primary data collection Cases examined for descriptives with AXIN2 variation	94 families (104 patients) Ages 19–32 years	yes	Yes	Requires statements of ethics committee approval and participant consent.
14	Marvin ML, Mazzoni SM, Herron CM, Edwards S, Gruber SB, Petty EM. 201 1	AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome 10.1002/ajmg.a.33927 American Journal of Medical Genetics Part A	33	US	Case report Mutation analysis Primary data collection Case examined for descriptives with AXIN2 variation	Proband, age 35 years Plus adult family (ages 35 to 97 years) N = 5	yes	yes	Requires statements of ethics committee approval and participant consent.
15	Kantaputra PN, Hutsadaloi A, Kaewgahya M, Intachai W, German R, Koparal M, Leethanakul C, Tolun A, Cairns JRK 2018	WNT1 OB mutations associated with isolated dental anomalies. 10.1111/cge.13218 Clinical Genetics	7	Thailand	Mutation analysis Whole genome sequencing Protein modeling Primary data collection Case examined for descriptives with AXIN2 variation and other variations	256 with various tooth agenesis Ages not provided. (Radiographic images indicated adults)	yes	yes	Requires written statement of ethical committee approval. Authors confirm consent was obtained but no requirement for a written statement in the journal
16	Sery O, Bonczek O, Hlouskova A, Cernochova P, Vanek J, Misek 1, Krejci P, Holla LI 2015	A screen of a large Czech cohort of oligodontia patients implicates a novel mutation in the PAX9 gene 10.1111/eos.12170 European Journal of Oral Sciences	2	Czech Republic	DNA analysis Mutation analysis Primary data collection Case examined for descriptives with AXIN2 variation and other variations	270 with oligodontia 30 controls Ages 9 to 23 years	Yes	yes	Requires statement of independent review, consent obtained, and research conducted following Declaration of Helsinki
17	Kimura M, Machida J, Yamaguchi S, Shibata A, Tatematsu, et al. 2013	Novel nonsense mutation in MSXI in familial nonsyndromic oligodontia: subcellar localization and role of homeodomain/MH4 10.1111/eos.12170 European Journal of Oral Sciences	12	Japan	Mutation analyses Primary data collection Case examined for descriptives with AXIN2 variation and other variations	6 familial and 7 sporadic cases Ages not provided. (Radiographic images indicated adults)	Yes	no	Requires statements of independent review, consent obtained, and research conducted following Declaration of Helsinki
18	Yue H, Liang J, Yang K, Hua B, Bian Z. 2016	Functional analysis of a novel missense mutation in AXIN2 associated with non-syndromic tooth agenesis 10.1111/eos.12273 European Journal of Oral Sciences	7	China	Conservation analysis Mutation analysis Primary data collection Case examined for descriptives with AXIN2 variation and other variations	1 proband and 6 family members (3 generations) Age of proband not provided (Radiographic image indicates adult) 500 controls	Yes	yes	Requires statements of independent review, consent obtained, and research conducted following Declaration of Helsinki
19	Yang L, Liang J, Yue H, Bian Z. 2020	Two novel mutations in MSXI causing oligodontia 10.1371/journal.pone.0227287 PLoS One	1	China	Mutation analysis Primary data collection Case examined for descriptives with AXIN2 variation and other variations	2 probands (ages 16 years and 21 years) and family 300 controls	yes	yes	Member of COPE. Journal requires a written Ethics Statement concerning risks.
20	Mazzoni SM, Petty EM, Stoffel EM, Fearon ER 2015	An AXIN2 Mutant Allele Associated with Predisposition to Colorectal Neoplasia Has Contex-Dependent Effects on AXIN2 Protein Function 10.1016/j.neo.2015.04.006 Neoplasia	8	US	Mutation analysis in cell line and with one heterozygous carrier Primary data collection Gene activity studied	1 blood draw Age not provided	Not reported	yes	Requires written statements of ethics committee approval, informed consent, compliance with Declaration of Helsinki
21	Bock NC, Lenz S, Ruiz-Heiland G, Ruf S. 2017	Nonsyndromic oligodontia: Does the Tooth Agenesis Code (TAC) enable prediction of the causative mutation? 10.1007/s00056-016-0056-y Journal of Orofacial Orthopedics/ =Fortschritte der Kieferothopadie	4	Germany	Mutation gene vs oligodontia Primary data collection Cases examined for descriptives with AXIN2 variation and other variations	20 Ages 7–16 years	yes	yes	Member of COPE. Journal requires written statement of compliance with ethical standards; documentation of compliance must be available upon request.
22	Chu K, Wang Y, Chou Y, Chen, J Wang Y, Simmer JP, Hu J, Wang. 2021	Synergistic Mutations of LRP6 and WNTI0A in Familial Tooth Agenesis. 10.3390/jpml1111217 Journal of Personalized Medicine	0	Taiwan	Mutational analysis Primary data collection Cases examined for descriptives with AXIN2 variation and other variations	4 families Proband ages: 7 years; 6 years; 1 1 years; and 10 years	yes	yes	Requires written statements of ethics committee approval, informed consent, compliance with Declaration of Helsinki.
23	Keskin G, Karaer K, Gundogar ZU 2021	Targeted next-generation sequencing (NGS) analysis of mutations in nonsyndromic tooth agenesis candidate genes: Analysis of a Turkish cohort 10.1007/s00056-021-00284-4 Journal of Orofacial Orthopedics/ Fortschritte der Kieferothopadie	1	Turkey	Genetics sequencing analysis Primary data collection Cases examined for descriptives with AXIN2 variation and other variations and associations	49 with agenesis Ages 6–13 years	Yes	yes	Member of COPE. Journal requires written statement of compliance with ethical standards; documentation of compliance must be available upon request.
24	Yuan Q, Zhao M, Tandon B, Maili L, Liu X, et al. 2017	Role of WNT10A in failure of tooth development in humans and zebrafish 10.1002/mgg3.332 Molecular genetics and genomic medicine	7	US	Genetic sequencing Primary data collection Cases examined for descriptives with AXIN2 variation and other variations	Proband, age 9 years	yes	yes	Requires written statement of ethics committee approval. Collects information that consent was obtained but does not require statement. Must follow Declaration of Helsinki.
25	Qin H, CaiJ 2015	Axis inhibition protein 2 polymorphisms may be a risk factor for families with isolated oligodontia 10.3892/mmr.2014.2900 Molecular Medicine Reports	2	China	Mutation analysis Primary data collection Case examined for descriptives with AXIN2 variation	Proband, age not reported, but radiographically has second molars in bell stage, and 8 family members 60 others	Yes	Not mentioned	Requires written statement of ethics committee approval. Must follow Declaration of Helsinki. Editor may request supporting information.
26	Vierra 2021	Prophylactic subtotal colectomy in a patient with an AXIN2 mutation 10.1093/jscr/rjab470 Journal of surgical Case Reports	0	US	Case study Genetic testing for AXIN2 was positive, multiple polyps. Case	1, age 50 years	Not mentioned	Not mentioned	Requires written statements of ethics committee approval, informed consent, compliance with Declaration of Helsinki.
27	Arte S, Parmanen S, Pirinen S, Alaluusua S, Nieminen P. 2013	Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations 10.1371/journal.pone.0073705 Plos one	38	Finland	Mutation analysis Primary data collection Cases examined for descriptives with AXIN2 variation and other variations	127 probands, ages 6–54 years	Yes	yes	Member of COPE. Journal requires a written Ethics Statement concerning risks.
28	Alfawaz S, Fong F, Plagnol V, Wong FSL, Fearne J, Kelsell DP. 2013	Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene 10.1016/j.archoralbio.2012.12.008 Archives of Oral Biology	11	Pakistan	Mutation analysis Primary data collection Cases examined for descriptives with AXIN2 variation and other variations	3 siblings ages 8, 10, 16 years	yes	yes	Requires written statements of following ethical code (Declaration of Helsinki, etc.) and written informed consent was obtained.
29	Mastouri MH, DeCoster P, Zaghabani A, et al. 2018	Genetic study of non-syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member I0A genes: a case series 10.1111/eos.12391 European Journal of Oral Sciences	5	Tunisia	DNA sequencing Analysis of mutations (insilico poly Ph en database) Primary data collection Cases examined for descriptives with AXIN2 variation and other variations	28 with oligodontia and 9 family members 88 others Ages not provided	Yes	Not mentioned	Requires statements of independent review, consent obtained, and research conducted following Declaration of Helsinki
30	Bonczek O, Bielik P, Krejci P, Zeman T, et al. 2018	Next generation sequencing reveals a novel nonsense mutation in MSXI gene related to oligodontia 10.1371/journal.pone.0202989 PLoS One	19	Czech Republic	Molecular modeling Primary data collection Cases examined for descriptives with AXIN2 variation and other variations	60 with agenesis, ages 13 to 17 years.	Not mentioned	Not Mentioned	Member of COPE. Journal requires a written Ethics Statement concerning risks.
31	Jobbagy-Ovari G, Paska C, Stiedl P, Trimmei B, et al., 2014	Complex analysis of multiple single nucleotide polymorphisms as putative risk factors of tooth agenesis in the Hungarian population 10.3109/00016357.2013.822547 Acta Odontologica Scandinavica	8	Hungary	Genotyping Primary data collection Chi-Square analysis of differences among groups of variation vs group	469 192-hypodontia mean age and SD 18.9 ± 7.7 years 17-Oligodontia mean age and SD 21 ±6.1 years 260-Control mean age and SD 26.2 ± 13.4 years	Yes	yes	Member of COPE. Journal requires written statement of compliance with ethical standards; documentation of compliance must be available upon request.
32	Liang J, Qin C, Yue H, He H, Bian Z 2016	A novel initiation condon mutation of PAX9 in a family with oligodontia 10.1016/j.archoralbio.2015.10.022 Archives of Oral Biology	23	China	Mutation analysis Primary data collection Cases examined for descriptives with AXIN2 variation and other variations	1 family Proband, age 12 years 100 controls	Yes	yes	Requires written statement of following ethical code (Declaration of Helsinki, etc.) and written informed consent was obtained.
33	Sarkar T, Bansal R, Das P 2014	Whole genome sequencing reveals novel non- synonymous mutation in ectodysplasin A (EDA) associated with non-sydromic X-linked dominant congenital tooth agenesis 10.1371/journal.pone.0106811 Plos One	19	India	DNA sequencing Primary data collection Cases examined for descriptives with AXIN2 variation and other variations	1 family (6 people) Proband, age 6 years Also affected 2 family members ages < 12 years and mother	Yes	yes	Member of COPE. Journal requires a written Ethics Statement concerning risks.

Abbreviation: COPE, Committee on Publication Ethics; PI, principle investigator.