Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism
Albinism encompasses a group of hereditary disorders characterized by reduced or absent ocular pigment and variable skin and/or hair involvement, with syndromic forms such as Hermansky–Pudlak syndrome and Chédiak–Higashi syndrome. Autosomal recessive oculocutaneous albinism (OCA) is phenotypically a...
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MDPI AG
2021-03-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/12/4/508 |
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| author | Hwei Wuen Chan Elena R. Schiff Vijay K. Tailor Samantha Malka Magella M. Neveu Maria Theodorou Mariya Moosajee |
| author_facet | Hwei Wuen Chan Elena R. Schiff Vijay K. Tailor Samantha Malka Magella M. Neveu Maria Theodorou Mariya Moosajee |
| author_sort | Hwei Wuen Chan |
| collection | DOAJ |
| description | Albinism encompasses a group of hereditary disorders characterized by reduced or absent ocular pigment and variable skin and/or hair involvement, with syndromic forms such as Hermansky–Pudlak syndrome and Chédiak–Higashi syndrome. Autosomal recessive oculocutaneous albinism (OCA) is phenotypically and genetically heterogenous (associated with seven genes). X-linked ocular albinism (OA) is associated with only one gene, <i>GPR143</i>. We report the clinical and genetic outcomes of 44 patients, from 40 unrelated families of diverse ethnicities, with query albinism presenting to the ocular genetics service at Moorfields Eye Hospital NHS Foundation Trust between November 2017 and October 2019. Thirty-six were children (≤ 16 years) with a median age of 31 months (range 2–186), and eight adults with a median age of 33 years (range 17–39); 52.3% (<i>n</i> = 23) were male. Genetic testing using whole genome sequencing (WGS, <i>n</i> = 9) or a targeted gene panel (<i>n</i> = 31) gave an overall diagnostic rate of 42.5% (44.4% (4/9) with WGS and 41.9% (13/31) with panel testing). Seventeen families had confirmed mutations in <i>TYR</i> (<i>n</i> = 9), <i>OCA2</i>, (<i>n</i> = 4), <i>HPS1</i> (<i>n</i> = 1), <i>HPS3</i> (<i>n</i> = 1), <i>HPS6</i> (<i>n</i> = 1), and <i>GPR143</i> (<i>n</i> = 1). Molecular diagnosis of albinism remains challenging due to factors such as missing heritability. Differential diagnoses must include <i>SLC38A8</i>-associated foveal hypoplasia and syndromic forms of albinism. |
| first_indexed | 2024-03-10T12:46:57Z |
| format | Article |
| id | doaj.art-e6516f8e31ba432ea03132c4a0240ca9 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T12:46:57Z |
| publishDate | 2021-03-01 |
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| series | Genes |
| spelling | doaj.art-e6516f8e31ba432ea03132c4a0240ca92023-11-21T13:26:47ZengMDPI AGGenes2073-44252021-03-0112450810.3390/genes12040508Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous AlbinismHwei Wuen Chan0Elena R. Schiff1Vijay K. Tailor2Samantha Malka3Magella M. Neveu4Maria Theodorou5Mariya Moosajee6Moorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UKMoorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UKMoorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UKMoorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UKMoorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UKMoorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UKMoorfields Eye Hospital NHS Foundation Trust, London EC1V 2PD, UKAlbinism encompasses a group of hereditary disorders characterized by reduced or absent ocular pigment and variable skin and/or hair involvement, with syndromic forms such as Hermansky–Pudlak syndrome and Chédiak–Higashi syndrome. Autosomal recessive oculocutaneous albinism (OCA) is phenotypically and genetically heterogenous (associated with seven genes). X-linked ocular albinism (OA) is associated with only one gene, <i>GPR143</i>. We report the clinical and genetic outcomes of 44 patients, from 40 unrelated families of diverse ethnicities, with query albinism presenting to the ocular genetics service at Moorfields Eye Hospital NHS Foundation Trust between November 2017 and October 2019. Thirty-six were children (≤ 16 years) with a median age of 31 months (range 2–186), and eight adults with a median age of 33 years (range 17–39); 52.3% (<i>n</i> = 23) were male. Genetic testing using whole genome sequencing (WGS, <i>n</i> = 9) or a targeted gene panel (<i>n</i> = 31) gave an overall diagnostic rate of 42.5% (44.4% (4/9) with WGS and 41.9% (13/31) with panel testing). Seventeen families had confirmed mutations in <i>TYR</i> (<i>n</i> = 9), <i>OCA2</i>, (<i>n</i> = 4), <i>HPS1</i> (<i>n</i> = 1), <i>HPS3</i> (<i>n</i> = 1), <i>HPS6</i> (<i>n</i> = 1), and <i>GPR143</i> (<i>n</i> = 1). Molecular diagnosis of albinism remains challenging due to factors such as missing heritability. Differential diagnoses must include <i>SLC38A8</i>-associated foveal hypoplasia and syndromic forms of albinism.https://www.mdpi.com/2073-4425/12/4/508albinismfoveal hypoplasianystagmuschiasmal misroutingoculocutaneous albinismocular albinism |
| spellingShingle | Hwei Wuen Chan Elena R. Schiff Vijay K. Tailor Samantha Malka Magella M. Neveu Maria Theodorou Mariya Moosajee Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism Genes albinism foveal hypoplasia nystagmus chiasmal misrouting oculocutaneous albinism ocular albinism |
| title | Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism |
| title_full | Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism |
| title_fullStr | Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism |
| title_full_unstemmed | Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism |
| title_short | Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism |
| title_sort | prospective study of the phenotypic and mutational spectrum of ocular albinism and oculocutaneous albinism |
| topic | albinism foveal hypoplasia nystagmus chiasmal misrouting oculocutaneous albinism ocular albinism |
| url | https://www.mdpi.com/2073-4425/12/4/508 |
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