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Mutations in a single copy of SNAI2 have also been found to cause patches of hair depigmentation without any other symptoms. [25] Type 2E is caused by an autosomal dominant mutation in the gene SOX10. [4] Rarely, a mutation in a gene other than those currently known may be responsible for a Waardenburg syndrome with features of type 2.
[56] [57] However, more recent ancient DNA research has identified human remains much older than the Neolithic period which possess the OCA2 mutation for blue eyes. It is now believed that the OCA2 allele responsible for blue eyes dates back to the migration of modern humans out of Africa roughly 50,000 years ago, and entered Europe from ...
Blue cone monochromacy (BCM) is an inherited eye disease that causes severe color blindness, poor visual acuity, nystagmus, hemeralopia, and photophobia due to the absence of functional red (L) and green (M) cone photoreceptor cells in the retina. BCM is a recessive X-linked disease and almost exclusively affects XY karyotypes.
Haemochromatosis is protean in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems.Many of the signs and symptoms below are uncommon, and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they have premature morbidity, if they are diagnosed early, but, more ...
P protein, also known as melanocyte-specific transporter protein or pink-eyed dilution protein homolog, is a protein that in humans is encoded by the oculocutaneous albinism II (OCA2) gene. [5] The P protein is believed to be an integral membrane protein involved in small molecule transport, specifically of tyrosine —a precursor of melanin .
BCM results from mutations in a single red or red–green hybrid opsin gene, mutations in both the red and the green opsin genes or deletions within the adjacent LCR (locus control region) on the X chromosome. [3] Green cone monochromacy (GCM), also known as M-cone monochromacy, is a condition where the blue and red cones are absent in the ...
In contrast, mutations in the gene BAP1 are strongly linked to metastatic spread and patient survival. [17] Incidence of posterior uveal melanoma is highest among people with light skin and blue eyes. Other risk factors, such as blue light exposure and arc welding, have been put forward, but are still debated in the field.
OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes. [2] Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders. [3] [4] [5]: 864 Oculocutaneous albinism is also found in non-human animals.