Tags

Type your tag names separated by a space and hit enter

WNT10A mutations also associated with agenesis of the maxillary permanent canines, a separate entity.
Am J Med Genet A. 2014 Feb; 164A(2):360-3.AJ

Abstract

Agenesis or isolated hypodontia of the maxillary permanent canines is a very rare dental anomaly. We report on nine unrelated Thai patients with this condition. Three of them had one affected parent. Three heterozygous missense mutations (p.Arg171Cys; p.Gly213Ser; and IVS2+1G>A) were identified in WNT10A in six patients. The p.Gly213Cys mutation was found in four patients. One of the patients who had p.Gly213Ser mutation also had peg-shaped (microdontia of the) maxillary lateral incisors with dens invaginatus. The mothers of two patients who carried the same mutation as their affected sons (p.Gly213Ser and p.Arg171Cys) had microdontia of the maxillary permanent lateral incisor. Our study has demonstrated for the first time that agenesis of the maxillary permanent canines is a distinct entity, associated with mutations in WNT10A. Inheritance appears to be autosomal dominant. Agenesis of the maxillary permanent canines may accompany by microdontia of the maxillary permanent lateral incisors and dens invaginatus of the maxillary permanent lateral incisors. Mutations could not be identified in the coding exons of WNT10A in three patients. They might be located outside the coding exons, including the promoter regions. However, it is likely that agenesis of the maxillary permanent canines is a heterogeneous disorder.

Authors+Show Affiliations

Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand; Craniofacial Genetics Laboratory, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand; Dentaland Clinic, Chiang Mai, Thailand.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

24311251

Citation

Kantaputra, P, et al. "WNT10A Mutations Also Associated With Agenesis of the Maxillary Permanent Canines, a Separate Entity." American Journal of Medical Genetics. Part A, vol. 164A, no. 2, 2014, pp. 360-3.
Kantaputra P, Kaewgahya M, Kantaputra W. WNT10A mutations also associated with agenesis of the maxillary permanent canines, a separate entity. Am J Med Genet A. 2014;164A(2):360-3.
Kantaputra, P., Kaewgahya, M., & Kantaputra, W. (2014). WNT10A mutations also associated with agenesis of the maxillary permanent canines, a separate entity. American Journal of Medical Genetics. Part A, 164A(2), 360-3. https://doi.org/10.1002/ajmg.a.36280
Kantaputra P, Kaewgahya M, Kantaputra W. WNT10A Mutations Also Associated With Agenesis of the Maxillary Permanent Canines, a Separate Entity. Am J Med Genet A. 2014;164A(2):360-3. PubMed PMID: 24311251.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - WNT10A mutations also associated with agenesis of the maxillary permanent canines, a separate entity. AU - Kantaputra,P, AU - Kaewgahya,M, AU - Kantaputra,W, Y1 - 2013/12/05/ PY - 2012/12/03/received PY - 2013/09/10/accepted PY - 2013/12/7/entrez PY - 2013/12/7/pubmed PY - 2014/9/12/medline KW - dens invaginatus KW - ectodermal dysplasia KW - hypodontia KW - hypotrichosis KW - microdontia KW - missing teeth KW - nail dysplasia KW - odonto-onycho-dermal dysplasia KW - peg-shaped lateral incisor KW - sparse hair KW - tricho-odonto-onycho-dermal dysplasia SP - 360 EP - 3 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 164A IS - 2 N2 - Agenesis or isolated hypodontia of the maxillary permanent canines is a very rare dental anomaly. We report on nine unrelated Thai patients with this condition. Three of them had one affected parent. Three heterozygous missense mutations (p.Arg171Cys; p.Gly213Ser; and IVS2+1G>A) were identified in WNT10A in six patients. The p.Gly213Cys mutation was found in four patients. One of the patients who had p.Gly213Ser mutation also had peg-shaped (microdontia of the) maxillary lateral incisors with dens invaginatus. The mothers of two patients who carried the same mutation as their affected sons (p.Gly213Ser and p.Arg171Cys) had microdontia of the maxillary permanent lateral incisor. Our study has demonstrated for the first time that agenesis of the maxillary permanent canines is a distinct entity, associated with mutations in WNT10A. Inheritance appears to be autosomal dominant. Agenesis of the maxillary permanent canines may accompany by microdontia of the maxillary permanent lateral incisors and dens invaginatus of the maxillary permanent lateral incisors. Mutations could not be identified in the coding exons of WNT10A in three patients. They might be located outside the coding exons, including the promoter regions. However, it is likely that agenesis of the maxillary permanent canines is a heterogeneous disorder. SN - 1552-4833 UR - https://wwww.unboundmedicine.com/medline/citation/24311251/WNT10A_mutations_also_associated_with_agenesis_of_the_maxillary_permanent_canines_a_separate_entity_ L2 - https://doi.org/10.1002/ajmg.a.36280 DB - PRIME DP - Unbound Medicine ER -