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The OCA clinical presentation is due to a deficiency of melanin biosynthesis. Intellectual disability (ID) in OCA\u00a0cases is a rare clinical presentation and appropriate diagnosis of ID is challenging through clinical examination. We report an Indian family with a rare co-inheritance of OCA1B and ID\u00a0due to a novel <jats:italic>TYR<\/jats:italic> gene variant and\u00a0chromosomal copy number variations.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We have done a study on three siblings (2 males and 1 female) of a family where all of them presented with hypopigmented skin, hair and eyes. The male children and their father was affected with ID. Targeted exome sequencing and multiplex ligation-dependent probe amplification analysis were carried out to identify the OCA1B and ID associated genomic changes.\u00a0Further\u00a0Array-CGH was performed using SurePrint G3 Human CGH\u2009+\u2009SNP, 8*60\u00a0K array.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>A rare homozygous deletion of exon 3 in <jats:italic>TYR\u00a0<\/jats:italic>gene causing OCA1B was identified in all three children. The parents were found to be heterozygous carriers. The Array-CGH analysis revealed paternally inherited heterozygous deletion (1.9\u00a0MB) of 15q11.1-&gt;\u200915q11.2 region in all three children. Additionally, paternally inherited heterozygous deletion (2.6\u00a0MB) of 10q23.2-&gt;\u200910q23.31 region was identified in the first male child; this may be associated with ID\u00a0as the father and the child both presented with ID. While the 2nd\u00a0male child had a\u00a0denovo duplication of 13q31.1-&gt;\u200913q31.3 chromosomal region.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>A rare homozygous\u00a0<jats:italic>TYR\u00a0<\/jats:italic>gene exon 3 deletion in the present study is the cause of OCA1B in all three children, and the additional copy number variations are associated with the ID. The study\u00a0highlights the importance of combinational genetic approaches for\u00a0diagnosing two different co-inherited disorders (OCA and ID). Hence, OCA cases with additional clinical presentation need to be studied in-depth for the appropriate management of the disease.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12920-021-01152-1","type":"journal-article","created":{"date-parts":[[2022,1,3]],"date-time":"2022-01-03T09:05:28Z","timestamp":1641200728000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Novel deletion of exon 3 in TYR\u00a0gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations"],"prefix":"10.1186","volume":"15","author":[{"given":"Somprakash","family":"Dhangar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Purvi","family":"Panchal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jagdeeshwar","family":"Ghatanatti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jitendra","family":"Suralkar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anjali","family":"Shah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4783-2691","authenticated-orcid":false,"given":"Babu Rao","family":"Vundinti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,1,3]]},"reference":[{"issue":"3","key":"1152_CR1","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1016\/S0959-437X(03)00059-5","volume":"13","author":"RA Spritz","year":"2003","unstructured":"Spritz RA, Chiang PW, Oiso N, Alkhateeb A. 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(Ethics approval\u00a0number: NIIH\/IEC\/22\u20132019). Peripheral blood was collected for genetic analysis after a written and informed consent was obtained from the participants and the parents for minors.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval and consent to participate"}},{"value":"Written Informed consent was obtained from the family for the publication of anonymous clinical details. For all the three children (below 18\u00a0years) written informed consent was taken in from the mother.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"All the authors declared no competing interest.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"2"}}