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A Genetic Study of Hypohidrotic Ectodermal Dysplasia

Shozo Ohdo, Takuya Ikeda, Kunio Hayakawa

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Abstract

Abstract The heredity of hypohidrotic ectodermal dysplasia (HED) has been considered to be X‐linked recessive, autosomal recessive or autosomal dominant. In this report, a genetic analysis was carried out on a total of 57 patients with HED including 6 patients recently examined by the present authors and 51 patients reported in Japan before May, 1980. The morbidity varied depending on sexes, being significantly higher in men than in women (p < 0.001). Consanguinity was positive in 12.8% of the patients. The segregation ratio calculated, however, suggested that an autosomal recessive trait did not account for all the cases. The pedigree analysis and the segregation ratios revealed that HED was probably not autosomal dominant. It is finally pointed out that the heredity of all the patients with HED reported in Japan might be X‐linked recessive.

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Abstract The heredity of hypohidrotic ectodermal dysplasia (HED) has been considered to be X‐linked recessive, autosomal recessive or autosomal dominant. In this report, a genetic analysis was carried out on a total of 57 patients with HED including 6 patients recently examined by the present authors and 51 patients reported in Japan before May, 1980. The morbidity varied depending on sexes, being significantly higher in men than in women (p < 0.001). Consanguinity was positive in 12.8% of the patients. The segregation ratio calculated, however, suggested that an autosomal recessive trait did not account for all the cases. The pedigree analysis and the segregation ratios revealed that HED was probably not autosomal dominant. It is finally pointed out that the heredity of all the patients with HED reported in Japan might be X‐linked recessive.

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Available abstract

Abstract The heredity of hypohidrotic ectodermal dysplasia (HED) has been considered to be X‐linked recessive, autosomal recessive or autosomal dominant. In this report, a genetic analysis was carried out on a total of 57 patients with HED including 6 patients recently examined by the present authors and 51 patients reported in Japan before May, 1980. The morbidity varied depending on sexes, being significantly higher in men than in women (p < 0.001). Consanguinity was positive in 12.8% of the patients. The segregation ratio calculated, however, suggested that an autosomal recessive trait did not account for all the cases. The pedigree analysis and the segregation ratios revealed that HED was probably not autosomal dominant. It is finally pointed out that the heredity of all the patients with HED reported in Japan might be X‐linked recessive.

Key concepts: Hypohidrotic ectodermal dysplasia, Medicine, Heredity, Consanguinity, Autosomal recessive inheritance, Hypodontia, X-linked recessive inheritance, Trait

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