{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T11:19:22Z","timestamp":1787915962460,"version":"build-2784847793"},"reference-count":20,"publisher":"BMJ","issue":"8","funder":[{"DOI":"10.13039\/501100005809","name":"Hyderabad Eye Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,8,20]]},"published-print":{"date-parts":[[2026,8]]},"abstract":"<jats:p>Oculocutaneous albinism (OCA) is characterised by hypopigmentation of the skin, hair and eyes. Developmental delay is not a commonly reported feature in OCA. A female toddler was diagnosed with OCA, global developmental delay, hypotonia and congenital heart disease.<\/jats:p>\n                  <jats:p>\n                    Given the coexisting neurodevelopmental and cardiac abnormalities, chromosomal microarray (CMA) analysis was performed, which revealed a homozygous deletion at chromosome 11q14.3 involving the\n                    <jats:italic>TYR<\/jats:italic>\n                    ,\n                    <jats:italic>GRM5<\/jats:italic>\n                    and\n                    <jats:italic>NOX4<\/jats:italic>\n                    genes. Parental segregation analysis using CMA demonstrated heterozygous deletions in both parents, with the proband\u2019s homozygous deletion resulting from overlapping parental deletions.\n                  <\/jats:p>\n                  <jats:p>\n                    To our knowledge, this is the first reported case of a large\n                    <jats:italic>TYR<\/jats:italic>\n                    gene deletion causing OCA, thereby expanding the mutational spectrum associated with the disorder. This case highlights the importance of detailed phenotyping and appropriate selection of genetic testing. Additionally, parental segregation analysis plays a crucial role in improving diagnostic accuracy and in understanding genotype-phenotype correlations.\n                  <\/jats:p>","DOI":"10.1136\/bcr-2026-274952","type":"journal-article","created":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T10:55:25Z","timestamp":1787914525000},"page":"e274952","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Homozygous 11q14.3 deletion causing oculocutaneous albinism and multisystem disorder"],"prefix":"10.1136","volume":"19","author":[{"given":"Jincy Mariya","family":"Paul","sequence":"first","affiliation":[{"name":"Trinity Super Speciality Eye Hospital, Pallakad, Kerala, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vyshnavika","family":"Mupparapu","sequence":"additional","affiliation":[{"name":"Ocular Genetics Services, LV Prasad Eye Institute, Hyderabad, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Goura","family":"Chattannavar","sequence":"additional","affiliation":[{"name":"Ocular Genetics Services, LV Prasad Eye Institute, Hyderabad, Telangana, India"},{"name":"Child Sight Institute, LV Prasad Eye Institute, Hyderabad, Telangana, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,8,28]]},"reference":[{"key":"2026082803552067000_19.8.e274952.1","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.jaapos.2010.10.012","article-title":"Albinism for the busy clinician","volume":"15","author":"Levin","year":"2011","journal-title":"J Am Assoc Pediatr Ophthalmol Strabismus"},{"key":"2026082803552067000_19.8.e274952.2","doi-asserted-by":"crossref","DOI":"10.1167\/iovs.64.10.14","article-title":"Determining a Worldwide Prevalence of Oculocutaneous Albinism: A Systematic Review","volume":"64","author":"Kromberg","year":"2023","journal-title":"Invest Ophthalmol Vis Sci"},{"key":"2026082803552067000_19.8.e274952.3","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1111\/j.1469-1809.2006.00247.x","article-title":"OCA1 in different ethnic groups of India is primarily due to founder mutations in the tyrosinase gene","volume":"70","author":"Chaki","year":"2006","journal-title":"Ann Hum Genet"},{"key":"2026082803552067000_19.8.e274952.4","unstructured":"Thomas MG , Zippin J , Brooks BP . Oculocutaneous albinism and ocular albinism overview. In: Adam MP , Bick S , Mirzaa GM , eds. GeneReviews. Seattle (WA): University of Washington, Seattle, 1993: 37053367. Available: http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK590568\/"},{"key":"2026082803552067000_19.8.e274952.5","unstructured":"Federico JR , Krishnamurthy KA . StatPearls. Treasure Island (FL): StatPearls Publishing, 2025. 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