Abstract
BackgroundMutations in the EDAR-gene cause hypohidrotic ectodermal dysplasia, however, the oral phenotype has been described in a limited number of cases. The aim of the present study was to clinically describe individuals with the c.1072C > T mutation (p. Arg358X) in the EDAR gene with respect to dental signs and saliva secretion, symptoms from other ectodermal structures and to assess orofacial function.MethodsIndividuals in three families living in Sweden, where some members had a known c.1072C > T mutation in the EDAR gene with an autosomal dominant inheritance (AD), were included in a clinical investigation on oral signs and symptoms and self-reported symptoms from other ectodermal structures (n = 37). Confirmation of the c.1072C > T mutation in the EDAR gene were performed by genomic sequencing. Orofacial function was evaluated with NOT-S.ResultsThe mutation was identified in 17 of 37 family members. The mean number of missing teeth due to agenesis was 10.3 ± 4.1, (range 4–17) in the mutation group and 0.1 ± 0.3, (range 0–1) in the non-mutation group (p < 0.01). All individuals with the mutation were missing the maxillary lateral incisors and one or more of the mandibular incisors; and 81.3% were missing all four. Stimulated saliva secretion was 0.9 ± 0.5 ml/min in the mutation group vs 1.7 ± 0.6 ml/min in the non-mutation group (p < 0.01). Reduced ability to sweat was reported by 82% in the mutation group and by 20% in the non-mutation group (p < 0.01). The mean NOT-S score was 3.0 ± 1.9 (range 0–6) in the mutation group and 1.5 ± 1.1 (range 0–5) in the non-mutation group (p < 0.01). Lisping was present in 56% of individuals in the mutation group.ConclusionsIndividuals with a c.1072C > T mutation in the EDAR-gene displayed a typical pattern of congenitally missing teeth in the frontal area with functional consequences. They therefore have a need for special attention in dental care, both with reference to tooth agenesis and low salivary secretion with an increased risk for caries. Sweating problems were the most frequently reported symptom from other ectodermal structures.
Highlights
Mutations in the ectodysplasin anhidrotic receptor (EDAR)-gene cause hypohidrotic ectodermal dysplasia, the oral phenotype has been described in a limited number of cases
Subjects Individuals in two families living in northern Sweden, where some members had a known mutation in the EDAR gene, were contacted and invited to participate in a clinical examination for patient characterization (n = 33)
Fourteen of the family members had earlier been included in a genetic study [10] where a premature stop codon in the EDAR gene was found
Summary
Mutations in the EDAR-gene cause hypohidrotic ectodermal dysplasia, the oral phenotype has been described in a limited number of cases. Arg358X) in the EDAR gene with respect to dental signs and saliva secretion, symptoms from other ectodermal structures and to assess orofacial function. EDs are genetic disorders with lack or dysgenesis of at least two of the ectodermal derivatives hair, nails, teeth or sweat glands [2]. Hypohidrotic ectodermal dysplasia (HED) is the most common form of ectodermal dysplasia and is characterized by defective development of teeth, hair, and sweat glands. Common symptoms in subjects with HED are reduced number of teeth and sweat glands, reduced saliva secretion, sparse and thin hair, and dry skin [3]. Other clinical manifestations are dryness of airways and mucous membranes presumably due to the defective development of exocrine glands. HED can be associated with dysmorphic facial features as a prominent forehead, dark, hyperkeratinized skin around the eyes, everted nose, and prominent lips [4]
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