Dental Phenotype with Minor Ectodermal Symptoms Suggestive of <i>WNT10A</i> Deficiency

• Main Authors: Victoria-Eugenia (Author), Ximo Galiana-Vallés (Author), Otilia Zomeño-Alcalá (Author), Raquel Rodríguez-López (Author), Carmen Llena (Author), María del Carmen Martínez-Romero (Author), Encarna Guillén-Navarro (Author)
• Format: Book
• Published: MDPI AG, 2023-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Summary

Ectodermal dysplasias (EDs) represent a heterogeneous group of genetic disorders characterized by the abnormal development of ectodermal-derived tissues. They include the involvement of the hair, nails, skin, sweat glands, and teeth. Pathogenic variants in <i>EDA1</i> (Xq12-13.1; OMIM*300451), <i>EDAR</i> (2q11-q13; OMIM*604095), <i>EDARADD</i> (1q42-q43, OMIM*606603), and <i>WNT10A</i> (2q35; OMIM*606268) genes are responsible for most EDs. Bi-allelic pathogenic variants of <i>WNT10A</i> have been associated with autosomal recessive forms of ED, as well as non-syndromic tooth agenesis (NSTA). The potential phenotypic impact of associated modifier mutations in other ectodysplasin pathway genes has also been pointed out. We present on an 11-year-old Chinese boy with oligodontia, with conical-shaped teeth as the main phenotype, and other very mild ED signs. The genetic study identified the pathogenic variants <i>WNT10A</i> (NM_025216.3): c.310C > T; p. (Arg104Cys) and c.742C > T; p. (Arg248Ter) in compound heterozygosis, confirmed by parental segregation. In addition, the patient had the polymorphism <i>EDAR</i> (NM_022336.4): c.1109T > C, p. (Val370Ala) in homozygosis, named EDAR370. A prominent dental phenotype with minor ectodermal symptoms is very suggestive of <i>WNT10A</i> mutations. In this case, the EDAR370A allele might also attenuate the severity of other ED signs.

Item Description

10.3390/children10020356
2227-9067