Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review
Oculocutaneous albinism (OCA) is an autosomal recessive syndromic and non-syndromic defect with deficient or a complete lack of the melanin pigment. The characteristics of OCA appears in skin, hair, and eyes with variable degree of pigmentation. Clinical manifestations of OCA include nystagmus, phot...
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MDPI AG
2022-06-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/13/6/1072 |
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| author | Muhammad Ikram Ullah |
| author_facet | Muhammad Ikram Ullah |
| author_sort | Muhammad Ikram Ullah |
| collection | DOAJ |
| description | Oculocutaneous albinism (OCA) is an autosomal recessive syndromic and non-syndromic defect with deficient or a complete lack of the melanin pigment. The characteristics of OCA appears in skin, hair, and eyes with variable degree of pigmentation. Clinical manifestations of OCA include nystagmus, photophobia, reduced visual acuity, hypo-plastic macula, and iris trans-illumination. There are eight OCA types (OCA1–8) documented with non-syndromic characteristics. Molecular studies identified seven genes linked to the OCA phenotype (<i>TYR</i>, <i>OCA2</i>, <i>TYRP1</i>, <i>SLC45A2</i>, <i>SLC24A5</i>, <i>C10orf11,</i> and <i>DCT</i>) and one locus (OCA5) in consanguineous and sporadic albinism. The complications of OCA result in skin cancer and variable syndromes such as Hermansky–Pudlak syndrome (HPS) Chediak–Higashi syndrome (CHS). In the Pakistani population, autosomal recessive non-syndromic OCA is common and is associated with a large number of consanguineous families, and mutations in genes of non-syndromic types are reported. This review highlights the updates on the genetic mutation of OCA genes reported from Pakistani families. Several studies reported the genetic mutations in OCA1, OCA2, OCA3, OCA4, and OCA6 albinism in Pakistani families. A locus, OCA5, was also reported from the Pakistani population, but the gene has not been identified. A new type of OCA8 was identified due to the <i>DCT</i> gene mutation, and it is also reviewed here. |
| first_indexed | 2024-03-09T23:42:35Z |
| format | Article |
| id | doaj.art-1a8a329a0c954e8682f59dda4814ea12 |
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| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-09T23:42:35Z |
| publishDate | 2022-06-01 |
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| series | Genes |
| spelling | doaj.art-1a8a329a0c954e8682f59dda4814ea122023-11-23T16:48:48ZengMDPI AGGenes2073-44252022-06-01136107210.3390/genes13061072Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A ReviewMuhammad Ikram Ullah0Department of Clinical Laboratory Sciences, College of Applied Medical Sciences, Jouf University, Sakaka 75471, Aljouf, Saudi ArabiaOculocutaneous albinism (OCA) is an autosomal recessive syndromic and non-syndromic defect with deficient or a complete lack of the melanin pigment. The characteristics of OCA appears in skin, hair, and eyes with variable degree of pigmentation. Clinical manifestations of OCA include nystagmus, photophobia, reduced visual acuity, hypo-plastic macula, and iris trans-illumination. There are eight OCA types (OCA1–8) documented with non-syndromic characteristics. Molecular studies identified seven genes linked to the OCA phenotype (<i>TYR</i>, <i>OCA2</i>, <i>TYRP1</i>, <i>SLC45A2</i>, <i>SLC24A5</i>, <i>C10orf11,</i> and <i>DCT</i>) and one locus (OCA5) in consanguineous and sporadic albinism. The complications of OCA result in skin cancer and variable syndromes such as Hermansky–Pudlak syndrome (HPS) Chediak–Higashi syndrome (CHS). In the Pakistani population, autosomal recessive non-syndromic OCA is common and is associated with a large number of consanguineous families, and mutations in genes of non-syndromic types are reported. This review highlights the updates on the genetic mutation of OCA genes reported from Pakistani families. Several studies reported the genetic mutations in OCA1, OCA2, OCA3, OCA4, and OCA6 albinism in Pakistani families. A locus, OCA5, was also reported from the Pakistani population, but the gene has not been identified. A new type of OCA8 was identified due to the <i>DCT</i> gene mutation, and it is also reviewed here.https://www.mdpi.com/2073-4425/13/6/1072albinismconsanguinityclinical spectrumgenetic mutationsnon-syndromic oculocutaneous albinism |
| spellingShingle | Muhammad Ikram Ullah Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review Genes albinism consanguinity clinical spectrum genetic mutations non-syndromic oculocutaneous albinism |
| title | Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review |
| title_full | Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review |
| title_fullStr | Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review |
| title_full_unstemmed | Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review |
| title_short | Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review |
| title_sort | clinical and mutation spectrum of autosomal recessive non syndromic oculocutaneous albinism nsoca in pakistan a review |
| topic | albinism consanguinity clinical spectrum genetic mutations non-syndromic oculocutaneous albinism |
| url | https://www.mdpi.com/2073-4425/13/6/1072 |
| work_keys_str_mv | AT muhammadikramullah clinicalandmutationspectrumofautosomalrecessivenonsyndromicoculocutaneousalbinismnsocainpakistanareview |