Callea, Michele, Cammarata-Scalisi, Francisco, Willoughby, Colin E, Giglio, Sabrina R, Sani, Ilaria, Bargiacchi, Sara, Traficante, Giovanna, Bellacchio, Emanuele, Tadini, Gianluca, Yavuz, Izzet et al (show 2 more authors)
(2017)
Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia.
ARCHIVOS ARGENTINOS DE PEDIATRIA, 115 (1).
E34-E38.
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Abstract
Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia. We report on clinical findings in a child with HED with autosomal dominant inheritance pattern with a heterozygous mutation c.1072C>T (p.Arg358X) in the EDAR gene. A review of the literature with regard to other cases presenting the same mutation has been carried out and discussed.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | ectodermal dysplasia, ectodermal dysplasia hypohidrotic autosomal dominant inheritance, EDAR receptor, c.1072C > T, p.Arg358X |
| Depositing User: | Symplectic Admin |
| Date Deposited: | 23 Feb 2017 10:50 |
| Last Modified: | 19 Jan 2023 07:16 |
| DOI: | 10.5546/aap.2017.e34 |
| Related URLs: | |
| URI: | https://livrepository.liverpool.ac.uk/id/eprint/3006007 |
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