Chromosome Parade #2: Hypohidrotic Ectodermal Dysplasia
Marching in our chromosome parade today is chromosome #2 and the gene that’s sitting on the float in the seat of honor is the ectodysplasin A receptor (EDAR) gene involved in determining the formation of body tissues that develop from the ectoderm - skin, hair, nails, and sweat glands. As many as 20 mutations in the EDAR gene have been associated with hypohidrotic ectodermal dysplasia. People with the condition experience:
- Reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly.
- Sparse scalp and body hair (hypotrichosis)
- Absent teeth (hypodontia) or malformed teeth
- Distinctive facial features - prominent forehead, thick lips, flattened bridge of nose
- Thin, wrinkled, and dark-colored skin around the eyes
- Chronic skin problems, e.g., eczema
- Foul smelling discharge from the nose (ozena)
Technorati Tags: chromosomes, chromosome 2, edar, ectodysplasin A receptor, hypohidrotic ectodermal dysplasia, genetics, genes, dna, diseases, illness, health
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