SLC24A5 Mutations Are Associated with Non-syndromic Oculocutaneous Albinism

Overview

Journal J Invest Dermatol

Publisher Elsevier

Specialty Dermatology

Date 2013 Aug 30

PMID 23985994

Citations 15

Authors

Fanny Morice-Picard

Eulalie Lasseaux

Stephane Francois

Delphine Simon

Caroline Rooryck

Eric Bieth

Estelle Colin

Dominique Bonneau

Hubert Journel

Sophie Walraedt

Bart P Leroy

Francoise Meire

Didier Lacombe

Benoit Arveiler

Affiliations

Soon will be listed here.

Citing Articles

Truncated SPAG9 as a novel candidate gene for a new syndrome: Coarse facial features, albinism, cataract and developmental delay (CACD syndrome).

Alfadhel M, Alhubayshi B, Umair M, Alfaidi A, Alwadaani D, Aloyouni E Genet Mol Biol. 2025; 48(1):e20240094.

PMID: 39846792 PMC: 11773325. DOI: 10.1590/1678-4685-GMB-2024-0094.

Regulation of K-Dependent Na/Ca-Exchangers (NCKX).

Al-Khannaq M, Lytton J Int J Mol Sci. 2023; 24(1).

PMID: 36614039 PMC: 9820825. DOI: 10.3390/ijms24010598.

Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.

Ullah M Genes (Basel). 2022; 13(6).

PMID: 35741834 PMC: 9222488. DOI: 10.3390/genes13061072.

Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues.

Ma E, Zhou A, Hoegler K, Khachemoune A Arch Dermatol Res. 2022; 315(2):107-116.

PMID: 35217926 DOI: 10.1007/s00403-022-02335-1.

Melanosome Biogenesis in the Pigmentation of Mammalian Skin.

Le L, Sires-Campos J, Raposo G, Delevoye C, Marks M Integr Comp Biol. 2021; 61(4):1517-1545.

PMID: 34021746 PMC: 8516112. DOI: 10.1093/icb/icab078.

References

Lamason R, Mohideen M, Mest J, Wong A, Norton H, Aros M . SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans. Science. 2005; 310(5755):1782-6. DOI: 10.1126/science.1116238. View

Gronskov K, Ek J, Sand A, Scheller R, Bygum A, Brixen K . Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. Invest Ophthalmol Vis Sci. 2008; 50(3):1058-64. DOI: 10.1167/iovs.08-2639. View

Ginger R, Askew S, Ogborne R, Wilson S, Ferdinando D, Dadd T . SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis. J Biol Chem. 2008; 283(9):5486-95. DOI: 10.1074/jbc.M707521200. View

Kausar T, Bhatti M, Ali M, Shaikh R, Ahmed Z . OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24. Clin Genet. 2012; 84(1):91-3. DOI: 10.1111/cge.12019. View

Tomita Y, Suzuki T . Genetics of pigmentary disorders. Am J Med Genet C Semin Med Genet. 2004; 131C(1):75-81. DOI: 10.1002/ajmg.c.30036. View

Wei A, Zang D, Zhang Z, Liu X, He X, Yang L . Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. J Invest Dermatol. 2013; 133(7):1834-40. DOI: 10.1038/jid.2013.49. View

Gronskov K, Dooley C, Ostergaard E, Kelsh R, Hansen L, Levesque M . Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. Am J Hum Genet. 2013; 92(3):415-21. PMC: 3591853. DOI: 10.1016/j.ajhg.2013.01.006. View

Hutton S, Spritz R . Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. J Invest Dermatol. 2008; 128(10):2442-50. PMC: 3515683. DOI: 10.1038/jid.2008.109. View

Mondal M, Sengupta M, Samanta S, Sil A, Ray K . Molecular basis of albinism in India: evaluation of seven potential candidate genes and some new findings. Gene. 2012; 511(2):470-4. DOI: 10.1016/j.gene.2012.09.012. View

10.

Vogel P, Read R, Vance R, Platt K, Troughton K, Rice D . Ocular albinism and hypopigmentation defects in Slc24a5-/- mice. Vet Pathol. 2008; 45(2):264-79. DOI: 10.1354/vp.45-2-264. View

11.

Stokowski R, Pant P, Dadd T, Fereday A, Hinds D, Jarman C . A genomewide association study of skin pigmentation in a South Asian population. Am J Hum Genet. 2007; 81(6):1119-32. PMC: 2276347. DOI: 10.1086/522235. View

12.

Wei A, Li W . Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis. Pigment Cell Melanoma Res. 2012; 26(2):176-92. DOI: 10.1111/pcmr.12051. View

13.

Witkop C . Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism. Ala J Med Sci. 1979; 16(4):327-30. View

14.

Suzuki T, Miyamura Y, Inagaki K, Tomita Y . Characterization of the human RAB38 and RAB7 genes: exclusion of new major pathological loci for Japanese OCA. J Dermatol Sci. 2003; 32(2):131-6. DOI: 10.1016/s0923-1811(03)00071-9. View