Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant
ABSTRACT Oculocutaneous albinism type IA (OCA1A) is a rare autosomal recessive disorder caused by variants in the TYR gene, resulting in complete loss of tyrosinase activity and absence of melanin production. In this study, we report a novel missense variant, TYR (NM_000372.5):c.143A>C (p.Gln48Pr...
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| Format: | Article |
| Language: | English |
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Wiley
2025-09-01
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| Series: | Clinical Case Reports |
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| Online Access: | https://doi.org/10.1002/ccr3.70818 |
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| author | Raghad N. Shihab Rusul Thabit Hamid Mostafa Neissi Javad Mohammadi‐Asl Motahareh Sheikh‐Hosseini Elaheh Nekouei |
| author_facet | Raghad N. Shihab Rusul Thabit Hamid Mostafa Neissi Javad Mohammadi‐Asl Motahareh Sheikh‐Hosseini Elaheh Nekouei |
| author_sort | Raghad N. Shihab |
| collection | DOAJ |
| description | ABSTRACT Oculocutaneous albinism type IA (OCA1A) is a rare autosomal recessive disorder caused by variants in the TYR gene, resulting in complete loss of tyrosinase activity and absence of melanin production. In this study, we report a novel missense variant, TYR (NM_000372.5):c.143A>C (p.Gln48Pro), found within exon 1 and mapped to chr11: g.89178096A>C (GRCh38/hg38). This variant was identified through exome sequencing in a 4‐year‐old Iranian girl from a consanguineous family presenting with features of OCA1A. This discovery expands the mutational spectrum of OCA1 and underscores the importance of genetic screening in diagnosing rare inherited disorders. Future studies involving functional assays are necessary to elucidate the molecular mechanisms of this variant and its potential impact on melanogenesis. |
| format | Article |
| id | doaj-art-e5e9c642a7e34ccdb8601325858c035a |
| institution | Kabale University |
| issn | 2050-0904 |
| language | English |
| publishDate | 2025-09-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj-art-e5e9c642a7e34ccdb8601325858c035a2025-08-25T12:56:15ZengWileyClinical Case Reports2050-09042025-09-01139n/an/a10.1002/ccr3.70818Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR VariantRaghad N. Shihab0Rusul Thabit Hamid1Mostafa Neissi2Javad Mohammadi‐Asl3Motahareh Sheikh‐Hosseini4Elaheh Nekouei5Cancer Researches Department, Iraqi Center for Cancer and Medical Genetic Research Mustansiriyah University Baghdad IraqCancer Researches Department, Iraqi Center for Cancer and Medical Genetic Research Mustansiriyah University Baghdad IraqDepartment of Genetics, Khuzestan Science and Research Branch Islamic Azad University Ahvaz IranNoor‐Gene Genetic Laboratory Ahvaz IranNoor‐Gene Genetic Laboratory Ahvaz IranDepartment of Biomedical and Clinical Science Linköping University, University Hospital Linköping SwedenABSTRACT Oculocutaneous albinism type IA (OCA1A) is a rare autosomal recessive disorder caused by variants in the TYR gene, resulting in complete loss of tyrosinase activity and absence of melanin production. In this study, we report a novel missense variant, TYR (NM_000372.5):c.143A>C (p.Gln48Pro), found within exon 1 and mapped to chr11: g.89178096A>C (GRCh38/hg38). This variant was identified through exome sequencing in a 4‐year‐old Iranian girl from a consanguineous family presenting with features of OCA1A. This discovery expands the mutational spectrum of OCA1 and underscores the importance of genetic screening in diagnosing rare inherited disorders. Future studies involving functional assays are necessary to elucidate the molecular mechanisms of this variant and its potential impact on melanogenesis.https://doi.org/10.1002/ccr3.70818exome‐sequencingoculocutaneous albinismTYR genevariant |
| spellingShingle | Raghad N. Shihab Rusul Thabit Hamid Mostafa Neissi Javad Mohammadi‐Asl Motahareh Sheikh‐Hosseini Elaheh Nekouei Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant Clinical Case Reports exome‐sequencing oculocutaneous albinism TYR gene variant |
| title | Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant |
| title_full | Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant |
| title_fullStr | Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant |
| title_full_unstemmed | Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant |
| title_short | Genetic Diagnosis of Oculocutaneous Albinism Type 1A: A Novel TYR Variant |
| title_sort | genetic diagnosis of oculocutaneous albinism type 1a a novel tyr variant |
| topic | exome‐sequencing oculocutaneous albinism TYR gene variant |
| url | https://doi.org/10.1002/ccr3.70818 |
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