Clinical and genetic aspects of albinism
DOI: 10.32364/2311-7729-2021-21-3-175-180
V.V. Kadyshev, S.A. Ryazhskaya, O.V. Khalanskaya, N.V. Zhurkova, R.A. Zinchenko
Research Center for Medical Genetics, Moscow, Russian Federation
Albinism is a clinically and genetically heterogeneous group of hereditary diseases whose pathogenesis is mediated by impaired synthesis of melanin which results in its partial or total loss. Reduced melatonin level clinically manifests as skin, hair, and ocular hypopigmentation. Ocular presentations include hypopigmentation/lack of pigmentation of eye fundus and iris, foveal hypoplasia, low vision, nystagmus and strabismus, photophobia, iris transillumination, and asymmetrical decussation of nerve fibers at the optic chiasm. However, albinism can be a part of more complex genetic syndromes, e.g., Hermansky-Pudlak syndrome or Chediak-Higashi syndrome. These disorders should be identified as early as possible to start therapy to prevent life-threatening conditions. Partial albinism with ocular, skin or hair hypopigmentation not associated with melanogenesis (e.g., Griscelli syndrome, Waardenburg syndrome, Aland Island eye disease, etc.) also occurs. Each case of albinism requir es an accurate molecular genetic diagnosis to provide a personalized treatment approach, predict life expectancy and health status, and plan pregnancy.
Keywords: albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, hypopigmentation, clinical polymorphism, genetic heterogeneity.
For citation: Kadyshev V.V., Ryazhskaya S.A., Khalanskaya O.V. et al. Clinical and genetic aspects of albinism. Russian Journal of Clinical Ophthalmology. 2021;21(3):175–180 (in Russ.). DOI: 10.32364/2311-7729-2021-21-3-175-180.
About the authors:
Vitaly V. Kadyshev — C. Sc. (Med.), senior researcher of the Laboratory of Genetic Epidemiology, Head of the Department of Ophthalmogenetics of the Institute of Higher and Additional Vocational Education, geneticist, ophthalmologist; ORCID iD 0000-0001-7765-3307.
Svetlana A. Ryazhskaya — clinical resident; ORCID iD 0000-0002-5224-5726.
Olga V. Khalanskaya — Assistant of the Department of Ophthalmogenetics of the Institute of Higher and Additional Vocational Education; ORCID iD 0000-0003-2708-9220.
Nataliya V. Zhurkova — C. Sc. (Med.), senior researcher of the Laboratory of Genetic Epidemiology; ORCID iD 0000-0001-6614-6115.
Rena A. Zinchenko — Dr. Sc. (Med.), Professor, Deputy Director for Scientific Clinical Work, Head of the Laboratory of Genetic Epidemiology; ORCID 0000-0003-3586-3458.
Research Center for Medical Genetics. 1, Moskvorechye str., Moscow, 115522, Russian Federation.
Con tact information: Vitaly V. Kadyshev, e-mail: vvh.kad@gmail.com.
Financial Disclosure: the study is supported by the RSF (research project No. 17-15-01051) and State Target of the Ministry of Science and Higher Education of Russian Federation. No authors have a financial or property interest in any material or method mentioned.
There is no conflict of interests.
Received 16.02.2021.
2. Käsmann-Kellner B., Schäfer T., Krick C.M. et al. Anatomische Unterschiede der Nervi optici, des Chiasmas und der Tractus optici bei normal- und hypopigmentierten Personen: eine standardisierte MRI- und fMRI-Untersuchung. Klinische Monatsblätter Für Augenheilkunde. 2003;220(5):334–344. DOI: 10.1055/s-2003–39427.
3. The portal for rare diseases and orphan drugs. Электронный ресурс: https://www.orpha.net/consor/cgi-bin/index.php (accessed 15.02.2021).
4. Winsor C.N., Holleschau A.M., Connett J.E., Summers C.G. A cross-sectional examination of visual acuity by specific type of albinism. J AAPOS. 2016 Oct;20(5):419–424. DOI: 10.1016/j.jaapos.2016.06.006.
5. Tsang S.H., Sharma T. Atlas of Inherited Retinal Diseases. Springer International Publishing; 2019.
6. Nathan V., Johansson P.A., Palmer J.M. et al. Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma. Pigment Cell Melanoma Res. 2019 Nov;32(6):854–863. DOI: 10.1111/pcmr.12804.
7. Campbell P., Ellingford J.M., Parry N.R.A. et al. Clinical and genetic variability in children with partial albinism. Sci Rep. 2019 Nov 12;9(1):16576. DOI: 10.1038/s41598-019-51768-8.
8. Grønskov K., Jespersgaard C., Bruun G.H. et al. A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1. Sci Rep. 2019;9:645. https://doi.org/10.1038/s41598–018–37272–5.
9. Dolinska M.B., Kus N.J., Farney S.K. et al. Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity. Pigment Cell Melanoma Res. 2017 Jan;30(1):41–52. DOI: 10.1111/pcmr.12546.
10. Grønskov K., Ek J., Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007 Nov 2;2:43. DOI: 10.1186/1750-1172-2-43.
11. Monfermé S., Lasseaux E., Duncombe-Poulet C. et al. Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene. Br J Ophthalmol. 2019 Sep;103(9):1239–1247. DOI: 10.1136/bjophthalmol-2018-312729.
12. King R.A., Hearing V.J., Creel D.J. et al. Albinism. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D. eds. The Metabolic and Molecular Basis of Inherited Disease. NY: McGraw-Hill; 2001;5587–5627.
13. Kenny E.E., Timpson N.J., Sikora M. et al. Melanesian blond hair is caused by an amino acid change in TYRP1. Science. 2012 May 4;336(6081):554. DOI: 10.1126/science.1217849.
14. Rundshagen U., Zühlke C., Opitz S. et al. Mutations in the MATP gene in five German patients affected by oculocutaneous albinism type 4. Hum Mutat. 2004 Feb;23(2):106–110. DOI: 10.1002/humu.10311.
15. Kausar T., Bhatti M.A., Ali M. et al. OCA5, a novel locus for non-syndromic oculocutaneous albinism, maps to chromosome 4q24. Clin Genet. 2013 Jul;84(1):91–93. DOI: 10.1111/cge.12019.
16. Wei A.H., Zang D.J., Zhang Z. et al. Exome sequencing identifies SLC24A5 as a candidate gene for nonsyndromic oculocutaneous albinism. J Invest Dermatol. 2013 Jul;133(7):1834–1840. DOI: 10.1038/jid.2013.49.
17. Grønskov K., Dooley C.M., Østergaard E. et al. Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. Am J Hum Genet. 2013 Mar 7;92(3):415–421. DOI: 10.1016/j.ajhg.2013.01.006.
18. Pennamen P., Tingaud-Sequeira A., Gazova I. et al. Dopachrome tautomerase variants in patients with oculocutaneous albinism. Genet Med. 2020 Oct 26. DOI: 10.1038/s41436-020-00997-8.
19. Garrido G., Fernández A., Montoliu L. HPS11 and OCA8: Two new types of albinism associated with mutations in BLOC1S5 and DCT genes. Pigment Cell Melanoma Res. 2020 Sep 24. https://doi.org/10.1111/pcmr.12929.
20. El-Chemaly S., Young L.R. Hermansky-Pudlak Syndrome. Clin Chest Med. 2016 Sep;37(3):505–511. DOI: 10.1016/j.ccm.2016.04.012.
21. Демина И.А., Зозуля Н.И., Лихачева Е.А. et al. Синдром Германски — Пудлака: особенности дифференциальной диагностики редкой формы наследственной тромбоцитопатии. Гематология и трансфузиология. 2015;60(4):41–44. [Demina I.A., Zozulya N.I., Likhacheva E.A. et al. The Germansky — Pudlack syndrome: Differential diagnosis of a rare hereditary thrombocytopathy. Hematology and transfusiology (Gematologiya i transfuziologiya). 2015;60(4):41–44 (in Russ.)].
22. Doubková M., Trizuljak J., Vrzalová Z. et al. Novel genetic variant of HPS1 gene in Hermansky-Pudlak syndrome with fulminant progression of pulmonary fibrosis: a case report. BMC Pulm Med. 2019 Oct 16;19(1):178. DOI: 10.1186/s12890-019-0941-4.
23. Sandrock K., Bartsch I., Rombach N. et al. Compound heterozygous mutations in 2 siblings with Hermansky — Pudlak syndrome type 1 (HPS1). Klin Padiatr. 2010 May;222(3):168–174. DOI: 10.1055/s-0030-1249628.
24. Tsilou E.T., Rubin B.I., Reed G.F. et al. Milder ocular findings in Hermansky — Pudlak syndrome type 3 compared with Hermansky— Pudlak syndrome type 1. Ophthalmology. 2004 Aug;111(8):1599–1603. DOI: 10.1016/j.ophtha.2003.12.058.
25. Dell’Acqua F., Saettini F., Castelli I. et al. Hermansky-Pudlak syndrome type II and lethal hemophagocytic lymphohistiocytosis: Case description and review of the literature. J Allergy Clin Immunol Pract. 2019 Sep–Oct;7(7):2476–2478.e5. DOI: 10.1016/j.jaip.2019.04.001.
26. Gradstein L., FitzGibbon E.J., Tsilou E.T. et al. Eye movement abnormalities in hermansky-pudlak syndrome. J AAPOS. 2005 Aug;9(4):369–378. DOI: 10.1016/j.jaapos.2005.02.017.
27. Anikster Y., Huizing M., White J. et al. Mutation of a new gene causes a unique form of Hermansky — Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet. 2001 Aug;28(4):376–380. DOI: 10.1038/ng576.
28. Wu W., Lin K., Yang Y. et al. A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China. Medicine (Baltimore). 2019 Aug;98(33):e16899. DOI: 10.1097/MD.0000000000016899.
29. Ringeisen A.L., Schimmenti L.A., White J.G. et al. Hermansky — Pudlak syndrome (HPS5) in a nonagenarian. Journal of American Association for Pediatric Ophthalmology and Strabismus. 2013;17(3):334–336. DOI: 10.1016/j.jaapos.2013.02.002.
30. Han C.G., O’Brien K.J., Coon L.M. et al. Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant. Am J Med Genet A. 2018 Dec;176(12):2819–2823. DOI: 10.1002/ajmg.a.40514.
31. Lowe G.C., Sánchez Guiu I., Chapman O. et al. Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky — Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life. Thromb Haemost. 2013 Apr;109(4):766–768. DOI: 10.1160/TH12-11-0876.
32. Pennamen, P., Tingaud‐Sequeira A., Michaud V. et al. Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky — Pudlak Syndrome. Pigment Cell and Melanoma Research; 2020. DOI: 10.1111/pcmr.12915.
33. Cullinane A.R., Curry J.A., Golas G. et al. A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky — Pudlak Syndrome type 8. Pigment Cell Melanoma Res. 2012 Sep;25(5):584–591. DOI: 10.1111/j.1755-148X.2012.01029.x.
34. Badolato R., Prandini A., Caracciolo S. et al. Exome sequencing reveals a pallidin mutation in a Hermansky — Pudlak-like primary immunodeficiency syndrome. Blood. 2012 Mar 29;119(13):3185–3187. DOI: 10.1182/blood-2012-01-404350.
35. Ammann S., Schulz A., Krägeloh-Mann I. et al. Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky — Pudlak syndrome. Blood. 2016 Feb 25;127(8):997–1006. DOI: 10.1182/blood-2015-09-671636.
36. Mohammed M., Al-Hashmi N., Al-Rashdi S. et al. Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder. Eur J Med Genet. 2019 Nov;62(11):103583. DOI: 10.1016/j.ejmg.2018.11.017.
37. Pennamen P., Le L., Tingaud-Sequeira A. et al. BLOC1S5 pathogenic variants cause a new type of Hermansky — Pudlak syndrome. Genet Med. 2020 Oct;22(10):1613–1622. DOI: 10.1038/s41436-020-0867-5.
38. Weisfeld-Adams J.D., Mehta L., Rucker J.C. et al. Atypical Chédiak — Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease. Orphanet J Rare Dis. 2013 Mar 22;8:46. DOI: 10.1038/s41436-020-0867-5.
39. Toro C., Nicoli E.R., Malicdan M.C. et al. Chediak — Higashi Syndrome. 2009 Mar 3 [Updated 2018 Jul 5]. In: Adam M.P., Ardinger H.H., Pagon R.A. et al. editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. URL: https://www.ncbi.nlm.nih.gov/books/NBK5188/ (access date: 12.02.2020).
40. Sayanagi K., Fujikado T., Onodera T., Tano Y. Chediak — Higashi syndrome with progressive visual loss. Jpn J Ophthalmol. 2003 May–Jun;47(3):304–306. DOI: 10.1016/s0021-5155 (03) 00018-2.
41. Tardieu M., Lacroix C., Neven B. et al. Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak — Higashi syndrome. Blood. 2005 Jul 1;106(1):40–42. DOI: 10.1182/blood-2005-01-0319.
42. De Azambuja A.P., do Nascimento B., Comar S.R. et al. Four cases of Chédiak — Higashi syndrome. Rev Bras Hematol Hemoter. 2011;33(4):315–316. DOI: 10.5581/1516-8484.20110084.
43. Родина Ю.А., Матвеев В.Е., Балашов Д.Н. и др. Синдром Чедиака — Хигаси. Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2016;15(1):27–33. [Rodina Yu.A., Matveev V.E., Balashov D.N. et al. Chediak — Higashi syndrome (Review of literature and clinical case reports). Pediatric Hematology/Oncology and Immunopathology. 2016;15(1):27–33 (in Russ.)]. DOI: 10.20953/1726-1708-2016-1-27-33.
44. Izumi K., Kohta T., Kimura Y. et al. Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal. Clin Genet. 2008 Jul;74(1):93–95. DOI: 10.1111/j.1399-0004.2008.01010.x.
45. Mahmood U., Méjécase C., Ali S.M.A. et al. A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness. Genes 2021:12:171. https://doi.org/10.3390/genes12020171.
This work is licensed under a Creative Commons «Attribution» 4.0 License.
Распечатать