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dc.contributor.authorSajid, Zureesha
dc.contributor.authorYousaf, Sairah
dc.contributor.authorWaryah, Yar M
dc.contributor.authorMughal, Tauqeer A
dc.contributor.authorKausar, Tasleem
dc.contributor.authorShahzad, Mohsin
dc.contributor.authorRao, Ali R
dc.contributor.authorAbbasi, Ansar A
dc.contributor.authorShaikh, Rehan S
dc.contributor.authorWaryah, Ali M
dc.contributor.authorRiazuddin, Saima
dc.contributor.authorAhmed, Zubair M
dc.date.accessioned2021-04-20T19:41:08Z
dc.date.available2021-04-20T19:41:08Z
dc.date.issued2021-03-28
dc.identifier.urihttp://hdl.handle.net/10713/15437
dc.description.abstractMelanin pigment helps protect our body from broad wavelength solar radiation and skin cancer. Among other pigmentation disorders in humans, albinism is reported to manifest in both syndromic and nonsyndromic forms as well as with varying inheritance patterns. Oculocutaneous albinism (OCA), an autosomal recessive nonsyndromic form of albinism, presents as partial to complete loss of melanin in the skin, hair, and iris. OCA has been known to be caused by pathogenic variants in seven different genes, so far, according to all the currently published population studies. However, the detection rate of alleles causing OCA varies from 50% to 90%. One of the significant challenges of uncovering the pathological variant underlying disease etiology is inter- and intra-familial locus heterogeneity. This problem is especially pertinent in highly inbred populations. As examples of such familial locus heterogeneity, we present nine consanguineous Pakistani families with segregating OCA due to variants in one or two different known albinism-associated genes. All of the identified variants are predicted to be pathogenic, which was corroborated by several in silico algorithms and association with diverse clinical phenotypes. We report an individual affected with OCA carries heterozygous, likely pathogenic variants in TYR and OCA2, raising the question of a possible digenic inheritance. Altogether, our study highlights the significance of exome sequencing for the complete genetic diagnosis of inbred families and provides the ramifications of potential genetic interaction and digenic inheritance of variants in the TYR and OCA2 genes.en_US
dc.description.urihttps://doi.org/10.3390/genes12040492en_US
dc.language.isoenen_US
dc.publisherMDPI AGen_US
dc.relation.ispartofGenesen_US
dc.subjectOCAen_US
dc.subjectOCA2en_US
dc.subjectPakistanen_US
dc.subjectTYRen_US
dc.subjectexome sequencingen_US
dc.subjectfamilial heterogeneityen_US
dc.subjectgenetic heterogeneityen_US
dc.subjectoculocutaneous albinismen_US
dc.titleGenetic Causes of Oculocutaneous Albinism in Pakistani Populationen_US
dc.typeArticleen_US
dc.identifier.doi10.3390/genes12040492
dc.identifier.pmid33800529
dc.source.volume12
dc.source.issue4
dc.source.countryUnited States
dc.source.countrySwitzerland


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