Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2019 Jul;7(7):e00687.
doi: 10.1002/mgg3.687. Epub 2019 Jun 14.

Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism

Ye Lin  1 , Xihui Chen  2 , Ying Yang  3 , Fengyu Che  3 , Sijia Zhang  2 , Lijuan Yuan  2   4 , Yuanming Wu  2
Affiliations

Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous Albinism

Ye Lin et al. Mol Genet Genomic Med. 2019 Jul.

Abstract

Background: Oculocutaneous albinism (OCA) is a group of heterogeneous autosomal recessive genetic disorder of melanin synthesis results in hypopigmented hair, skin, and eyes. OCA type 1, OCA type 2, and OCA type 4, which are respectively caused by mutations in TYR, OCA2, and SLC45A2 have high morbidity rates in Asia.

Methods: TYR, OCA2, and SLC45A2 mutation analysis was carried out on 18 nonconsanguineous OCA patients and four fetuses were included for prenatal diagnose. Three genes of all individuals were amplified by polymerase chain reaction and examined by Sanger sequencing. The pathogenicity of the detected mutations were analyzed by Mutation Taster, PolyPhen 2, and SIFT software, and the conservation of the substituted amino acids were analyzed by MEGA software.

Results: Eleven TYR mutations, three OCA2 mutations, and two SLC45A2 mutations were identified in 14 OCA type 1 patients, two OCA type 2 patients, and two OCA type 4 patients. c.1021A>G, p.R341G in TYR, c.1096_1104del, p.V366*, and c.1079C>T, p.S360F in OCA2 were novel. One of the four fetuses carried compound heterozygous mutation of TYR and became spontaneous abortion, the other three carried no mutations and appeared normal at birth.

Conclusion: In this study, specific clinical characteristics of OCA patients were described. Three novel pathogenic mutations were identified which will enrich the mutation spectrum of OCA, and the prenatal genetic screening in fetus at risk of OCA can provide vital information for genetic counseling.

Keywords: OCA2; SLC45A2; TYR; Oculocutaneous albinism; prenatal diagnosis.

PubMed Disclaimer

Conflict of interest statement

None declared.

Figures

Figure 1
Figure 1
(a–d) Photographs of four patients with OCA; (e–f) Patient 15 with OCA2 mutations has white skin but a pigmented nevus at groin (arrow)
Figure 2
Figure 2
(a) c.1021A>G mutation in TYR; (b) c.1096_1104del mutation in OCA2; (c) c.1079C>T mutation in OCA2
Figure 3
Figure 3
(a) The R341 in TYR and S360 in P protein are highly conserved amino acids throughout evolution; (b) Simulation of the amino acids conformation changes by SISWS‐MODEL
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Bellono, N. W. , Escobar, I. E. , Lefkovith, A. J. , Marks, M. S. , & Oancea, E. (2014). An intracellular anion channel critical for pigmentation. Elife, 3, e4543 10.7554/eLife.04543.001 - DOI - PMC - PubMed
    1. Cooksey, C. J. , Garratt, P. J. , Land, E. J. , Pavel, S. , Ramsden, C. A. , Riley, P. A. , & Smit, N. P. (1997). Evidence of the indirect formation of the catecholic intermediate substrate responsible for the autoactivation kinetics of tyrosinase. The Journal of Biological Chemistry, 272, 26226–26235. 10.1074/jbc.272.42.26226 - DOI - PubMed
    1. Fang, D. , Tsuji, Y. , & Setaluri, V. (2002). Selective down‐regulation of tyrosinase family gene TYRP1 by inhibition of the activity of melanocyte transcription factor, MITF. Nucleic Acids Research, 30, 3096–3106. 10.1093/nar/gkf424 - DOI - PMC - PubMed
    1. Fukamachi, S. , Shimada, A. , & Shima, A. (2001). Mutations in the gene encoding B, a novel transporter protein, reduce melanin content in medaka. Nature Genetics, 28, 381–385. 10.1038/ng584 - DOI - PubMed
    1. Gershoni‐Baruch, R. , Rosenmann, A. , Droetto, S. , Holmes, S. , Tripathi, R. K. , & Spritz, R. A. (1994). Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. American Journal of Human Genetics, 54, 586–594. - PMC - PubMed

Publication types

LinkOut - more resources