A Homozygous c.2536G-to-A Mutation in CRB1 Gene Manifesting Autosomal Recessive Retinitis Pigmentosa in a Large Consanguineous Kashmiri Family

Retinitis pigmentosa (RP) is the condition of visual impairment which has most feared impact on blind individuals and family. As the cheerful life is made possible by illumination of sight similarly on opposite, blindness snatch this beauty of life and push the sufferers to unending darkness which a...

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Bibliographic Details
Published in:Pakistan journal of zoology 2017-12, Vol.49 (6)
Main Authors: Latif, Zahid, Khan, Muhammad Nasim, Ali, Ghazanfar, Abbasi, Ansar Ahmed, Rauf, Abdul, Tahir, Tufail Hussain, Blasius, Kathrin, Kaindl, Angela M.
Format: Article
Language:English
Subjects:
Blindness
CRB1 gene
Darkness
Deoxyribonucleic acid
DNA
Gene mapping
Genes
Genetic testing
Heredity
Impact analysis
Impairment
Insects
Mutation
Nyctalopia
People with disabilities
Photoreceptors
Retina
Retinitis
Retinitis pigmentosa
Visual impairment
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Summary:Retinitis pigmentosa (RP) is the condition of visual impairment which has most feared impact on blind individuals and family. As the cheerful life is made possible by illumination of sight similarly on opposite, blindness snatch this beauty of life and push the sufferers to unending darkness which also has a negative social and economic wellbeing impact on individual's life. In society, the negative impact of visual impairment is the rejection and exclusion from all healthy activities of life. Patients suffering with RP first experience nyctalopia which gradually progress to tunnel vision and ultimately masks with complete blindness. Autosomal recessive mode of inheritance which contributes 20-25% of total known cases of RP, is almost the result of inbreed union or cousin marriages.In this study, a large consanguineous family with 11 affected individuals was recruited from Azad Jammu and Kashmir which was analyzed through linkage mapping and confirmed by Sanger sequencing. This family showed a homozygous c.2536G>A mutation in CRB1 gene as an underlying pathogenic variant for non-syndromic autosomal recessive retinitis pigmentosa.
ISSN:0030-9923
DOI:10.17582/journal.pjz/2017.49.6.2313.2317