Molecular basis of albinism in India: Evaluation of seven potential candidate genes and some new findings

Mondal, Maitreyee; Sengupta, Mainak; Samanta, Samiran; Sil, Asim Kumar; Ray, Kunal

doi:10.1016/j.gene.2012.09.012

Cited by 25 publications

(23 citation statements)

References 23 publications

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“…There is a single report till date for OCA5 in a consanguineous Pakistani family [Kausar et al, 2013]. A few distinct cases of SLC24A5 mediated OCA6 -one from India, one from China, two patients from France, three from Portugal, one from Belgium and one from Syria, have been reported till date [Mondal et al, 2012;Wei et al, 2013;Fanny et al, 2014]. Nine Faroese patients and one Danish patient of Lithuanian origin harbored mutations in C10ORF11 gene representing OCA7 [ Gronskov et al, 2014].…”

Section: Identitymentioning

confidence: 99%

Oculocutaneous Albinism

Ray¹,

Sengupta²,

Ganguly³

2017

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Section: Identitymentioning

confidence: 99%

Oculocutaneous Albinism

Ray¹,

Sengupta²,

Ganguly³

2017

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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“…The data regarding estimated frequency of OCA6 has not yet been determined in the population, but this type has been reported in affected members of Chinese or Indian ancestry [5,22]. Mutations in the Solute Carrier Family 24 (Sodium/ Potassium/Calcium Exchanger), Member 5 (SLC24A5) gene (OMIM # 609802) cause OCA6 phenotypes.…”

Section: Oca6mentioning

confidence: 99%

MC1R gene variants involvement in human OCA phenotype

2016

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Oculocutaneous albinism (OCA) is a genetic disorder of melanin synthesis that results in hypopigmentation in hair, skin and eyes. OCA has been reported in individuals from all ethnic backgrounds but it is more common among those with Europeans ancestry. OCA is heterogeneous group of disorders and seven types of OCA are caused by mutations in TYR (OCA1), OCA2 (OCA2), TYRP1 (OCA3), SLC45A2 (OCA4), SLC24A5 (OCA6) and C10oRF11 (OCA7) genes. However, MC1R gene variants have been reported that modify OCA2 phenotype but the knowledge about the function ofMC1R gene in melanogenesis, and genotype-phenotype association, in case of OCA, is limited. In this review article we present a comprehensive description of classification of OCA, role of MSH-R in melanin synthesis, the sequence variations in MC1R and their association with OCA. This review will enhance our understanding of MC1R gene variants involved in human OCA2 phenotype.

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“…9 Mutations in SLC24A5 have been found in OCA individuals from India and China. 10,11 The 4q24 locus has been mapped in individuals from Pakistan. 14 These forms of OCA have only recently been described.…”

Section: Analytical Validationmentioning

confidence: 99%

“…9 SLC24A5: intragenic mutations (nonsense and insertions). 10,11 There is no evidence for digenic inheritance. Given the genetic heterogeneity in OCA the incidental non-causative finding of heterozygous carrier state of one or more OCA genes can occur.…”

mentioning

confidence: 99%