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It results in blonde hair and the eventual development of skin pigmentation during infancy, though at birth is difficult to distinguish from other types. [7] [11] About 1 in 40,000 people have some form of OCA1. [12] OCA2: 203200: OCA2: The most common type of albinism is caused by mutation of the P gene.
Blond hair is controlled by an allele that is recessive to most alleles responsible for darker hair, [1] but it is not a disappearing gene.. The "disappearing blonde gene" refers to a hoax that emerged in parts of the Western world in the early 2000s, claiming that a scientific study had estimated that blonds would become extinct within the next two centuries.
Uncombable hair syndrome 2 is caused by a defect in transglutaminase 3 (TGM3) gene. This gene helps provide instructions for creating an enzyme known as transglutaminase 3. This gene is found in skin cells known as keratinocytes and corneocytes. This helps frame the scalp, root, and strands of hair. [14] It helps the molecules bind to other ...
Piebaldism refers to the absence of mature melanin-forming cells (melanocytes) in certain areas of the skin and hair. It is a rare autosomal dominant disorder of melanocyte development. [ 2 ] : 867 Common characteristics include a congenital white forelock , scattered normal pigmented and hypopigmented macules and a triangular shaped ...
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.
Ectodermal Dysplasia (ED) refers to a group of genetic disorders characterized by the abnormal development or function of two or more structures that originate from the ectoderm, the outer layer of an embryo. These structures include hair, teeth, nails, and sweat glands, all of which may develop abnormally in people with ED.
The gene overexpression may play key roles in carcinogenesis through activation of the WNT-beta-catenin-TCF signaling pathway. This gene and the WNT6 gene are clustered in the chromosome 2q35 region. [5] Mutations in the WNT10A gene are associated with Schöpf–Schulz–Passarge syndrome, [8] hypodontia, [9] and short anagen hair syndrome. [10]
Type 1 is associated with mutations in the MYO5A gene Type 2 is associated with mutations in RAB27A gene. Both these genes are located on the long arm of chromosome 15 (15q21). Type 3 is associated with mutations in the MLPH gene. All types are inherited in an autosomal recessive fashion.