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

作者：Latif, Zahid^*; Blasius, Kathrin; Tahir, Tufail Hussain; Khan, Muhammad Nasim; Ali, Ghazanfar; Abbasi, Ansar Ahmed; Rauf, Abdul; Hu, Hao; Kaindl, Angela M

来源：Pakistan Journal of Zoology, 2017, 49(6): 2313-2317.

DOI：10.17582/journal.pjz/2017.49.6.2313.2317

• Retinitis pigmentosa
• LCA
• Consanguineous marriage
• CRB1 gene
• Kashmiri

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.

• 出版日期2017-12
• 单位广州市妇女儿童医疗中心