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Published on: December 10, 2021
Tricho-odonto-onycho-dermal dysplasia and WNT10A mutations
P Kantaputra1, M Kaewgahya, D Jotikasthira
1Division 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; Center of Excellence in Medical Genetics Research, Chiang Mai University, Chiang Mai, Thailand.
Abstract:
We report on three novel (IVS2+1G>A splice site, c.1066G>T, and c.1039G>T, and one previously reported (c.637G>A) WNT10A mutations in three patients affected with odonto-onycho-dermal dysplasia (OODD; OMIM 275980). OODD is a rare form of autosomal recessive ectodermal dysplasia involving hair, teeth, nails, and skin, characterized by hypodontia (tooth agenesis), smooth tongue with marked reduction of filiform and fungiform papillae, nail dysplasia, dry skin, palmoplantar keratoderma, and hyperhidrosis of palms and soles. The novel IVS+1G>A splice site mutation is predicted to cause significant protein alteration. The other novel mutations we found including c.1066G>T and c.1039G>T are predicted to cause p.Gly356Cys and p.Glu347X, respectively. Barrel-shaped mandibular incisors and severe hypodontia appear to be associated with homozygous or compound heterozygous mutations of WNT10A. The name "tricho-odonto-onycho-dermal dysplasia" is suggested to replace "odonto-onycho-dermal dysplasia" because hair anomalies including hypotrichosis and slow-growing hair have been reported in numerous reported patients with this syndrome.
Insights
Researchers identified novel WNT10A gene mutations in patients with odonto-onycho-dermal dysplasia (OODD). These findings link WNT10A mutations to OODD, suggesting a potential name change to include hair anomalies.
Area of Science:
- Genetics and Molecular Biology
- Dermatology
- Oral and Maxillofacial Surgery
Background:
- Odonto-onycho-dermal dysplasia (OODD) is a rare autosomal recessive ectodermal dysplasia.
- It affects hair, teeth, nails, and skin, presenting with hypodontia, nail dysplasia, and palmoplantar keratoderma.
Observation:
- Three novel WNT10A mutations (IVS2+1G>A, c.1066G>T, c.1039G>T) and one known mutation (c.637G>A) were identified in three OODD patients.
- Novel mutations are predicted to cause significant protein alterations, including p.Gly356Cys and p.Glu347X.
Findings:
- Barrel-shaped mandibular incisors and severe hypodontia are associated with homozygous or compound heterozygous WNT10A mutations.
- The identified mutations provide new insights into the genetic basis of OODD.
Implications:
- The study suggests renaming OODD to "tricho-odonto-onycho-dermal dysplasia" due to observed hair anomalies.
- Understanding WNT10A's role can aid in diagnosing and potentially treating this rare condition.
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