WNT10A Gene

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1		Hongliu Chen	+ 580 word(s)	580	2020-12-15 08:14:33

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/wnt10a

WNT family member 10A.

genes

1. Normal Function

The WNT10A gene is part of a large family of WNT genes, which play critical roles in development starting before birth. These genes provide instructions for making proteins that participate in chemical signaling pathways in the body. Wnt signaling controls the activity of certain genes and regulates the interactions between cells during embryonic development.

The protein produced from the WNT10A gene plays a role in the development of many parts of the body. It appears to be essential for the formation of tissues that arise from an embryonic cell layer called the ectoderm. These tissues include the skin, hair, nails, teeth, and sweat glands. Researchers believe that the WNT10A protein is particularly important for the formation and shaping of both baby (primary) teeth and adult (permanent) teeth.

2. Health Conditions Related to Genetic Changes

2.1. Hypohidrotic Ectodermal Dysplasia

Several mutations in the WNT10A gene have been found to cause hypohidrotic ectodermal dysplasia, the most common form of ectodermal dysplasia. Starting before birth, ectodermal dysplasias result in the abnormal development of the skin, hair, nails, teeth, and sweat glands. Hypohidrotic ectodermal dysplasia is characterized by a reduced ability to sweat (hypohidrosis), sparse scalp and body hair (hypotrichosis), and several missing teeth (hypodontia) or teeth that are malformed. WNT10A gene mutations account for about 5 percent of all cases of hypohidrotic ectodermal dysplasia.

Most of the WNT10A gene mutations associated with hypohidrotic ectodermal dysplasia change single protein building blocks (amino acids) in the WNT10A protein, which impairs its function. The resulting shortage of functional WNT10A protein disrupts Wnt signaling during the development of ectodermal tissues, particularly the teeth.

Hypohidrotic ectodermal dysplasia can result from mutations in several genes. When the condition is caused by WNT10A gene mutations, its features are more variable than when the condition is caused by mutations in any other gene. Signs and symptoms range from mild to severe, and mutations in this gene are more likely to cause all of the permanent teeth to be missing.

2.2. Keratoconus

2.3. Other Disorders

Mutations in the WNT10A gene have been reported to cause several other, rare forms of ectodermal dysplasia, including odonto-onycho-dermal dysplasia (OODD) and Schopf-Schulz-Passarge syndrome (SSPS). OODD is characterized by dry hair, missing teeth, a smooth tongue, fingernail and toenail abnormalities, thickened skin on the palms of the hands and soles of the feet (palmoplantar keratoderma), and increased sweating (hyperhidrosis) of the palms and soles. The major features of SSPS include missing teeth, hypotrichosis, palmoplantar keratoderma, and fluid-filled sacs (cysts) on the edges of the eyelids.

WNT10A gene mutations are also frequently associated with a condition called nonsyndromic tooth agenesis. This condition causes one or more teeth not to form. Although missing teeth is a common feature of ectodermal dysplasias, "nonsyndromic" suggests that in these cases tooth agenesis occurs without the other signs and symptoms of those conditions.

More than 70 WNT10A gene mutations have been identified in people with various forms of ectodermal dysplasia or nonsyndromic tooth agenesis. Most of these mutations change single amino acids in the WNT10A protein, which impairs its function. The resulting shortage of functional WNT10A protein disrupts Wnt signaling during the development of ectodermal tissues, including the skin, hair, nails, teeth, and sweat glands. Researchers are working to determine why mutations in this gene can cause several different disorders.

3. Other Names for This Gene

OODD
protein Wnt-10a precursor
STHAG4
wingless-type MMTV integration site family, member 10A

References

Adaimy L, Chouery E, Megarbane H, Mroueh S, Delague V, Nicolas E, Belguith H, de Mazancourt P, Megarbane A. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. Am J HumGenet. 2007 Oct;81(4):821-8.
Arzoo PS, Klar J, Bergendal B, Norderyd J, Dahl N. WNT10A mutations accountfor ¼ of population-based isolated oligodontia and show phenotypic correlations. Am J Med Genet A. 2014 Feb;164A(2):353-9. doi: 10.1002/ajmg.a.36243.
Bohring A, Stamm T, Spaich C, Haase C, Spree K, Hehr U, Hoffmann M, Ledig S,Sel S, Wieacker P, Röpke A. WNT10A mutations are a frequent cause of a broadspectrum of ectodermal dysplasias with sex-biased manifestation pattern inheterozygotes. Am J Hum Genet. 2009 Jul;85(1):97-105. doi:10.1016/j.ajhg.2009.06.001.
Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, Bal E,Chassaing N, Vincent MC, Viot G, Clauss F, Manière MC, Toupenay S, Le Merrer M,Lyonnet S, Cormier-Daire V, Amiel J, Faivre L, de Prost Y, Munnich A, BonnefontJP, Bodemer C, Smahi A. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) accountfor 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat. 2011Jan;32(1):70-2. doi: 10.1002/humu.21384.
Kantaputra P, Kaewgahya M, Jotikasthira D, Kantaputra W.Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations. Am J Med Genet A.2014 Apr;164A(4):1041-8. doi: 10.1002/ajmg.a.36388.
Mues G, Bonds J, Xiang L, Vieira AR, Seymen F, Klein O, D'Souza RN. The WNT10Agene in ectodermal dysplasias and selective tooth agenesis. Am J Med Genet A.2014 Oct;164A(10):2455-60. doi: 10.1002/ajmg.a.36520.
Plaisancié J, Bailleul-Forestier I, Gaston V, Vaysse F, Lacombe D,Holder-Espinasse M, Abramowicz M, Coubes C, Plessis G, Faivre L, Demeer B,Vincent-Delorme C, Dollfus H, Sigaudy S, Guillén-Navarro E, Verloes A, JonveauxP, Martin-Coignard D, Colin E, Bieth E, Calvas P, Chassaing N. Mutations inWNT10A are frequently involved in oligodontia associated with minor signs ofectodermal dysplasia. Am J Med Genet A. 2013 Apr;161A(4):671-8. doi:10.1002/ajmg.a.35747.
Tardieu C, Jung S, Niederreither K, Prasad M, Hadj-Rabia S, Philip N, MalletA, Consolino E, Sfeir E, Noueiri B, Chassaing N, Dollfus H, Manière MC,Bloch-Zupan A, Clauss F. Dental and extra-oral clinical features in 41 patientswith WNT10A gene mutations: A multicentric genotype-phenotype study. Clin Genet. 2017 Nov;92(5):477-486. doi: 10.1111/cge.12972.

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Subjects: Genetics & Heredity

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Hongliu Chen

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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