title: Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.
abstract: Albinism is a heterogeneous genetic disorder of melanin synthesis that results in hypopigmented hair, skin and eyes. It is associated with decreased visual acuity, nystagmus, strabismus and photophobia. Six genes are known to be involved in nonsyndromic oculocutaneous albinism (OCA). In this study, we aimed to find the disease causing mutations in albinism patients using homozygosity mapping. Twenty three unrelated patients with nonsyndromic OCA or autosomal recessive ocular albinism were recruited in this study. All of the patients' parents had consanguineous marriage and all were screened for TYR mutations previously. At first, we performed homozygosity mapping using fluorescently labeled primers to amplify a novel panel of 13 STR markers inside the OCA genes and then the screened loci in each family were studied using PCR and cycle sequencing methods. We found five mutations including three mutations in OCA2, one mutation in SLC45A2 and one mutation in C10ORF11 genes, all of which were novel. In cases where the disease causing mutations are identical by descent due to a common ancestor, these STR markers can enable us to screen for the responsible genes.
authors.affiliation: Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran.
authors.forename: Faravareh
authors.initials: F
authors.lastname: Khordadpoor-Deilamani
authors.affiliation: Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.|Tehran Medical Genetics Laboratory, Tehran, Iran.
authors.forename: Mohammad Taghi
authors.initials: MT
authors.lastname: Akbari
authors.affiliation: Tehran Medical Genetics Laboratory, Tehran, Iran.|Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
authors.forename: Morteza
authors.initials: M
authors.lastname: Karimipoor
authors.affiliation: Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran.
authors.forename: Gholam Reza
authors.initials: GR
authors.lastname: Javadi
mesh_terms: D016117:Albinism, Ocular / Q000175:diagnosis* / Q000235:genetics*; D000483:Alleles; D002874:Chromosome Mapping; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004276:DNA, Satellite; D005091:Exons; D005260:Female; D056726:Genetic Association Studies; D005819:Genetic Markers; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007438:Introns; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D004276:DNA, Satellite; D005819:Genetic Markers
references.citation: Am J Hum Genet. 2003 Jan;72(1):62-72
references.pmid: 12469324
references.citation: Biomed Res Int. 2013;2013:697051
references.pmid: 23862152
references.citation: Gene. 2013 Jan 15;513(1):184-95
references.pmid: 23085273
references.citation: J Perinatol. 2010 Jun;30(6):434-6
references.pmid: 20508632
references.citation: Pigment Cell Melanoma Res. 2014 Jan;27(1):11-8
references.pmid: 24066960
references.citation: Hum Genet. 1999 Sep;105(3):200-10
references.pmid: 10987646
references.citation: Am J Hum Genet. 2013 Mar 7;92(3):415-21
references.pmid: 23395477
references.citation: Invest Ophthalmol Vis Sci. 2011 Mar 14;52(3):1281-9
references.pmid: 20861488
references.citation: Mol Vis. 2015 Jul 10;21:730-5
references.pmid: 26167114
references.citation: Arch Dermatol Res. 2008 Feb;300(2):81-5
references.pmid: 18034255
references.citation: Nucleic Acids Res. 1999 Jan 15;27(2):573-80
references.pmid: 9862982
references.citation: Invest Ophthalmol Vis Sci. 2014 May 20;55(7):4186-98
references.pmid: 24845642
references.citation: Pigment Cell Melanoma Res. 2014 Mar;27(2):169-77
references.pmid: 24387780
references.citation: Science. 2005 Dec 16;310(5755):1782-6
references.pmid: 16357253
references.citation: J Hum Genet. 2007;52(8):690-3
references.pmid: 17568986
references.citation: EMBO J. 1994 Dec 15;13(24):5818-25
references.pmid: 7813420
references.citation: Hum Mutat. 2004 Jun;23(6):630-1
references.pmid: 15146472
references.citation: J Invest Dermatol. 2010 Mar;130(3):716-24
references.pmid: 19865097
references.citation: Pigment Cell Melanoma Res. 2008 Oct;21(5):583-7
references.pmid: 18821858
references.citation: Cell Biochem Biophys. 2011 Dec;61(3):523-9
references.pmid: 21739261
references.citation: Nagoya J Med Sci. 1998 Oct;61(3-4):97-102
references.pmid: 9879192
references.citation: Ann Hum Biol. 2004 Mar-Apr;31(2):263-9
references.pmid: 15204368
references.citation: Genet Med. 2015 May;17(5):405-24
references.pmid: 25741868
references.citation: Orphanet J Rare Dis. 2012 Jun 26;7:44
references.pmid: 22734612
references.citation: Pflugers Arch. 2004 Feb;447(5):683-8
references.pmid: 14770312
references.citation: Clin Genet. 2013 Jul;84(1):91-3
references.pmid: 23050561
references.citation: Chin Med J (Engl). 2013 Jan;126(2):226-30
references.pmid: 23324268
references.citation: J Am Acad Dermatol. 2006 Sep;55(3):393-401
references.pmid: 16908342
references.citation: J Invest Dermatol. 2008 Oct;128(10):2442-50
references.pmid: 18463683
references.citation: J Invest Dermatol. 2013 Jul;133(7):1834-40
references.pmid: 23364476
references.citation: Biomed Res Int. 2014;2014:905472
references.pmid: 25093188
references.citation: Genome Res. 2007 Dec;17(12):1787-96
references.pmid: 17978285
references.citation: Zhongguo Ying Yong Sheng Li Xue Za Zhi. 2011 Aug;27(3):329-32
references.pmid: 22097729
references.citation: Cell Biochem Biophys. 2014 Jan;68(1):97-109
references.pmid: 23824587
references.citation: J Genet Couns. 2009 Feb;18(1):82-6
references.pmid: 18843527
references.citation: Invest Ophthalmol Vis Sci. 2008 Mar;49(3):868-72
references.pmid: 18326704
references.citation: Nature. 1993 Jan 7;361(6407):72-6
references.pmid: 8421497
references.citation: Hum Mutat. 2013 Jun;34(6):827-35
references.pmid: 23504663
references.citation: Pigment Cell Melanoma Res. 2013 Mar;26(2):176-92
references.pmid: 23171219
references.citation: Nat Genet. 1995 Jan;9(1):92-5
references.pmid: 7704033