title: Two novel tyrosinase (TYR) gene mutations with pathogenic impact on oculocutaneous albinism type 1 (OCA1).
abstract: Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders resulting from mutations of the tyrosinase (TYR) gene and presents with either complete or partial absence of pigment in the skin, hair and eyes due to a defect in an enzyme involved in the production of melanin. In this study, mutations in the TYR gene of 30 unrelated Iranian OCA1 patients and 100 healthy individuals were examined using PCR-sequencing. Additionally, in order to predict the possible effects of new mutations on the structure and function of tyrosinase, these mutations were analyzed by SIFT, PolyPhen and I-Mutant 2 software. Here, two new pathogenic p.C89S and p.H180R mutations were detected in two OCA1 patients. Moreover, the R402Q and S192Y variants, which are common non-pathogenic polymorphisms, were detected in 17.5% and 35% of the patients, respectively. The outcome of this study has extended the genotypic spectrum of OCA1 patients, which paves the way for more efficient carrier detection and genetic counseling.
authors.affiliation: Department of Biology, Kharazmi University, Tehran, Iran; Department of Medical Genetics, Special Medical Center, Tehran, Iran.
authors.forename: Vadieh
authors.initials: V
authors.lastname: Ghodsinejad Kalahroudi
authors.affiliation: Department of Pharmacy, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
authors.forename: Behnam
authors.initials: B
authors.lastname: Kamalidehghan
authors.affiliation: Department of Medical Genetics, Special Medical Center, Tehran, Iran.
authors.forename: Ahoura
authors.initials: A
authors.lastname: Arasteh Kani
authors.affiliation: Department of Medical Genetics, Special Medical Center, Tehran, Iran.
authors.forename: Omid
authors.initials: O
authors.lastname: Aryani
authors.affiliation: Department of Medical Genetics, Special Medical Center, Tehran, Iran; Department of Biochemistry and Molecular & Cellular Biology, Georgetown University, Washington, D.C., United States of America.
authors.forename: Mahdi
authors.initials: M
authors.lastname: Tondar
authors.affiliation: Department of Pharmacy, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Ahmadipour
authors.affiliation: Department of Pharmacy, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
authors.forename: Lip Yong
authors.initials: LY
authors.lastname: Chung
authors.affiliation: Department of Medical Genetics, Special Medical Center, Tehran, Iran; Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran.
authors.forename: Massoud
authors.initials: M
authors.lastname: Houshmand
mesh_terms: D000293:Adolescent; D000328:Adult; D016115:Albinism, Oculocutaneous / Q000201:enzymology* / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D030541:Databases, Genetic; D004587:Electrophoresis, Agar Gel; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D007492:Iran; D008297:Male; D008969:Molecular Sequence Data; D014442:Monophenol Monooxygenase / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D055815:Young Adult
chemical_list: D014442:Monophenol Monooxygenase