Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia
- Affiliations
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- 1Dermatology Department, Hospital Universitario, Universidad Autonoma de Nuevo Leon, Monterrey, NL, Mexico.
- 2Basic Science Department, Medicine School, Universidad de Monterrey, Monterrey, NL, Mexico.
- 3Barts and the London Genome Centre, John Vane Science Centre, Barts and the London School of Medicine and Dentistry, University of London, London, United Kingdom.
- 4Instituto Nacional de Pediatria, Coyoacan, CP, Mexico.
- 5Centre for Cutaneous Research, Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom.
- 6Departments of Dermatology, Genetics, and Pathology, Yale University School of Medicine, New Haven, CT, USA. keith.choate@yale.edu
- 7Facultad de Medicina, Departamento de Bioquimica y Medicina Molecular, Universidad Autonoma de Nuevo Leon, Monterrey, NL, Mexico.
- 8Vitagenesis, Monterrey, NL, Mexico.
- KMID: 2171517
- DOI: http://doi.org/10.5021/ad.2015.27.4.474
Abstract
- No abstract available.
Figure
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Fig. 1 Mutations in ectodisplasin (EDA) and ectodysplasin A-receptor (EDAR) genes cause hypohidrotic/anhidrotic ED (HED). (A) Index case (arrow) from X-linked pedigree shows multiple male affected offspring. Two of them died of fever during the first month of birth. Mutation analysis revels a homozygous c.1049G>A, p.G350D mutation. Male and female index cases (arrows) from a family with Autosomal Recessive HED. This patient has an heterozygous mutation in Exon 3 c.212 G>A, p.71 C>Y. The clinical findings of these two patients with HED show a sparse hair, frontal bossing, saddle nose, periocular hyperpigmentation and enlarged lips are evident. In our cohort there was no difference between the two forms of inheritance. White symbols indicate unaffected indiviudals, black squares and circles denote affected, dots indicate obligate carried females, the propositus are in arrows. (B) X-linked-HED, clinical variability in male patients analayzed. They show the clasical triad of HED, dental abnormalities, anhidrosis/hypohirosis and thin sparse hair. Some of them has normal hair appaerance and recessive HED female patient with minor clincal aspect of HED.
Reference
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