Clinical Utility Gene Card for Oculocutaneous (OCA) and Ocular Albinism (OA)-an Update

Overview

Journal Eur J Hum Genet

Specialty Genetics

Date 2021 Jan 28

PMID 33504991

Citations 4

Authors

Abdullah Aamir

Helen J Kuht

Karen Gronskov

Brian P Brooks

Mervyn G Thomas

Affiliations

Soon will be listed here.

Citing Articles

Chromosome-level reference genome for North American bison (Bison bison) and variant database aids in identifying albino mutation.

Stroupe S, Martone C, McCann B, Juras R, Kjollerstrom H, Raudsepp T G3 (Bethesda). 2023; 13(10).

PMID: 37481261 PMC: 10542314. DOI: 10.1093/g3journal/jkad156.

Determining a Worldwide Prevalence of Oculocutaneous Albinism: A Systematic Review.

Kromberg J, Flynn K, Kerr R Invest Ophthalmol Vis Sci. 2023; 64(10):14.

PMID: 37440261 PMC: 10353740. DOI: 10.1167/iovs.64.10.14.

Fond farewell to clinical utility gene cards.

McNeill A Eur J Hum Genet. 2021; 29(10):1473-1474.

PMID: 34497400 PMC: 8484671. DOI: 10.1038/s41431-021-00957-z.

M323V Syndrome Presents with Infantile Nystagmus.

Jin S, Park S, Won D, Lee S, Han S, Han J Genes (Basel). 2021; 12(4).

PMID: 33921132 PMC: 8071555. DOI: 10.3390/genes12040575.

References

Khordadpoor-Deilamani F, Akbari M, Karimipoor M, Javadi G . Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations. J Hum Genet. 2016; 61(5):373-9. DOI: 10.1038/jhg.2015.167. View

Gronskov K, Jespersgaard C, Bruun G, Harris P, Brondum-Nielsen K, Andresen B . A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1. Sci Rep. 2019; 9(1):645. PMC: 6345944. DOI: 10.1038/s41598-018-37272-5. View

Kuht H, Han J, Maconachie G, Park S, Lee S, McLean R . SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization. Hum Mol Genet. 2020; 29(18):2989-3002. PMC: 7645707. DOI: 10.1093/hmg/ddaa166. View

Straniero L, Rimoldi V, Solda G, Mauri L, Manfredini E, Andreucci E . Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites. J Hum Genet. 2015; 60(9):467-71. DOI: 10.1038/jhg.2015.56. View

Wei A, Zang D, Zhang Z, Yang X, Li W . Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families. J Genet Genomics. 2015; 42(6):279-86. DOI: 10.1016/j.jgg.2015.05.001. View

Norman C, OGorman L, Gibson J, Pengelly R, Baralle D, Ratnayaka J . Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). Sci Rep. 2017; 7(1):4415. PMC: 5493628. DOI: 10.1038/s41598-017-04401-5. View

Monferme S, Lasseaux E, Duncombe-Poulet C, Hamel C, Defoort-Dhellemmes S, Drumare I . Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the gene. Br J Ophthalmol. 2018; 103(9):1239-1247. DOI: 10.1136/bjophthalmol-2018-312729. View

Morice-Picard F, Lasseaux E, Plaisant C, Cailley D, Bouron J, Rooryck C . Albinism in a patient with mutations at both the OA1 and OCA3 loci. Pigment Cell Melanoma Res. 2015; 29(1):107-9. DOI: 10.1111/pcmr.12408. View

Thomas M, Papageorgiou E, Kuht H, Gottlob I . Normal and abnormal foveal development. Br J Ophthalmol. 2020; 106(5):593-599. DOI: 10.1136/bjophthalmol-2020-316348. View

10.

Oetting W, Pietsch J, Brott M, Savage S, Fryer J, Summers C . The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. Am J Med Genet A. 2009; 149A(3):466-9. DOI: 10.1002/ajmg.a.32654. View

11.

PEARCE W, Johnson G, GILLAN J . Nystagmus in a female carrier of ocular albinism. J Med Genet. 1972; 9(1):126-9. PMC: 1469202. DOI: 10.1136/jmg.9.1.126. View

12.

Zhong Z, Gu L, Zheng X, Ma N, Wu Z, Duan J . Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis. Pigment Cell Melanoma Res. 2019; 32(5):672-686. PMC: 6852118. DOI: 10.1111/pcmr.12790. View

13.

Mayeur H, Roche O, Vetu C, Jaliffa C, Marchant D, Dollfus H . Eight previously unidentified mutations found in the OA1 ocular albinism gene. BMC Med Genet. 2006; 7:41. PMC: 1468396. DOI: 10.1186/1471-2350-7-41. View

14.

Charles S, Moore A, Zhang Y, McMahon R, Barton D, Yates J . Carrier detection in X linked ocular albinism using linked DNA polymorphisms. Br J Ophthalmol. 1994; 78(7):539-41. PMC: 504859. DOI: 10.1136/bjo.78.7.539. View

15.

Zhang Y, Bai D, Qi Z, Zhao S, Yang X, Li W . Application of multiplex ligation-dependent probe amplification in the genetic testing of oculocutaneous albinism. Chin Med J (Engl). 2019; 132(16):2011-2012. PMC: 6708679. DOI: 10.1097/CM9.0000000000000356. View

16.

Rooryck C, Morice-Picard F, Elcioglu N, Lacombe D, Taieb A, Arveiler B . Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. Pigment Cell Melanoma Res. 2008; 21(5):583-7. DOI: 10.1111/j.1755-148X.2008.00496.x. View

17.

David C . Oculocutaneous albinism. Cutis. 2013; 91(5):E1-4. View

18.

Yamada M, Sakai K, Hayashi M, Hozumi Y, Abe Y, Kawaguchi M . Oculocutaneous albinism type 3: a Japanese girl with novel mutations in TYRP1 gene. J Dermatol Sci. 2011; 64(3):217-22. DOI: 10.1016/j.jdermsci.2011.09.005. View

19.

Campbell P, Ellingford J, Parry N, Fletcher T, Ramsden S, Gale T . Clinical and genetic variability in children with partial albinism. Sci Rep. 2019; 9(1):16576. PMC: 6851142. DOI: 10.1038/s41598-019-51768-8. View

20.

Liu S, Kuht H, Moon E, Maconachie G, Thomas M . Current and emerging treatments for albinism. Surv Ophthalmol. 2020; 66(2):362-377. DOI: 10.1016/j.survophthal.2020.10.007. View