Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa - PubMed (original) (raw)
Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa
R Kerr et al. Hum Mutat. 2000.
Erratum in
- Hum Mutat 2000;16(1):following 86
Abstract
Oculocutaneous albinism (OCA) is an inherited disorder resulting in hypopigmentation of the skin, hair, and eyes. OCA type 2 (tyrosinase-positive) is the most common recessively inherited disorder among southern African Blacks. OCA2 is also seen in southern African Caucasoids, but is less frequent. The gene responsible for this type of albinism, P, is the human homolog of the mouse pink-eyed dilution gene. Mutations at this locus are also responsible for the milder hypopigmentation phenotype seen in individuals with brown oculocutaneous albinism (BOCA). A common African P mutation was identified in Black OCA2 individuals, and has since been shown to occur in Black individuals with brown OCA as well. This mutation is a 2.7 kb interstitial deletion. In this study, we undertook to screen the coding region of the P gene for mutations in the non-2.7 kb deletion alleles of OCA2 patients who did not carry the deletion allele in either one or both of their P genes. We identified four mutations (A334V, 614delA, 683insG [corrected], 727insG) in a group of 39 unrelated Black OCA2 patients with a total of 52 non-2.7 kb deletion OCA2 genes. When taking all OCA2 cases into consideration, including those homozygous for the 2.7 kb deletion mutation, these account for a further 1.7% of OCA2 mutations in southern African Blacks, increasing the overall mutation detection rate to 78.7%. Three mutations (E678K, L688F, I370T) were identified in a group of 15 Black patients with an initially unclassified type of OCA and another three mutations (IVS 14-2 (a-->g), V350M, P743L) were identified in nine Caucasoid OCA patients. Relatively few mutations, all with low frequency, were identified in the non-2.7 kb deletion OCA genes. We propose that other mutations may lie either within intronic sequence or within the promoter region of the gene.
Copyright 2000 Wiley-Liss, Inc.
Similar articles
- In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified.
Manga P, Kromberg J, Turner A, Jenkins T, Ramsay M. Manga P, et al. Am J Hum Genet. 2001 Mar;68(3):782-7. doi: 10.1086/318800. Epub 2001 Feb 9. Am J Hum Genet. 2001. PMID: 11179026 Free PMC article. - Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene.
Manga P, Kromberg JG, Box NF, Sturm RA, Jenkins T, Ramsay M. Manga P, et al. Am J Hum Genet. 1997 Nov;61(5):1095-101. doi: 10.1086/301603. Am J Hum Genet. 1997. PMID: 9345097 Free PMC article. - Genetic analyses of oculocutaneous albinism types 1 and 2 with four novel mutations.
Yang Q, Yi S, Li M, Xie B, Luo J, Wang J, Rong X, Zhang Q, Qin Z, Hang L, Feng S, Fan X. Yang Q, et al. BMC Med Genet. 2019 Jun 13;20(1):106. doi: 10.1186/s12881-019-0842-7. BMC Med Genet. 2019. PMID: 31196117 Free PMC article. - [Genetics of oculocutaneous albinism].
Zühlke C, Stell A, Käsmann-Kellner B. Zühlke C, et al. Ophthalmologe. 2007 Aug;104(8):674-80. doi: 10.1007/s00347-007-1590-1. Ophthalmologe. 2007. PMID: 17646993 Review. German. - Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.
Ullah MI. Ullah MI. Genes (Basel). 2022 Jun 16;13(6):1072. doi: 10.3390/genes13061072. Genes (Basel). 2022. PMID: 35741834 Free PMC article. Review.
Cited by
- MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).
King RA, Willaert RK, Schmidt RM, Pietsch J, Savage S, Brott MJ, Fryer JP, Summers CG, Oetting WS. King RA, et al. Am J Hum Genet. 2003 Sep;73(3):638-45. doi: 10.1086/377569. Epub 2003 Jul 22. Am J Hum Genet. 2003. PMID: 12876664 Free PMC article. - In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified.
Manga P, Kromberg J, Turner A, Jenkins T, Ramsay M. Manga P, et al. Am J Hum Genet. 2001 Mar;68(3):782-7. doi: 10.1086/318800. Epub 2001 Feb 9. Am J Hum Genet. 2001. PMID: 11179026 Free PMC article. - Hermansky-Pudlak syndrome in two African-American brothers.
Merideth MA, Vincent LM, Sparks SE, Hess RA, Manoli I, O'Brien KJ, Tsilou E, White JG, Huizing M, Gahl WA. Merideth MA, et al. Am J Med Genet A. 2009 May;149A(5):987-92. doi: 10.1002/ajmg.a.32757. Am J Med Genet A. 2009. PMID: 19334085 Free PMC article. - Functional analysis of two mutation sites in the OCA2 gene.
Yuan X, Dang Q, Li XL. Yuan X, et al. Sci Rep. 2024 Jun 26;14(1):14789. doi: 10.1038/s41598-024-64782-2. Sci Rep. 2024. PMID: 38926510 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Molecular Biology Databases