Albinism.
Albinism was one of the first genetic diseases to be noted in humans, but until relatively recently, little was known of the molecular mechanisms involved in its pathogenesis. Recent advances have shown us that mutations in at least seven different genes can cause a reduction in melanin pigment biosynthesis, producing the various associated clinical features associated with albinism, including hypopigmentation of the skin, hair, and eyes; optic track misrouting; foveal hypoplasia; and reduced visual acuity. Analysis of mutations in these seven genes has revealed that the phenotypic spectrum associated with albinism is broad, making molecular analysis an important part in the accurate diagnosis of this disease.
Oetting
W S
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Department of Medicine, University of Minnesota, Minneapolis 55455, USA. bill@lenti.med.umn.edu
D000417:Albinism / Q000235:genetics*; D016115:Albinism, Oculocutaneous / Q000235:genetics; D002609:Chediak-Higashi Syndrome / Q000235:genetics; D002648:Child; D008040:Genetic Linkage; D006801:Humans; D009154:Mutation / Q000235:genetics; D020125:Mutation, Missense / Q000235:genetics; D014960:X Chromosome