Homozygosity Mapping and Targeted Sanger Sequencing Reveal Genetic Defects Underlying Inherited Retinal Disease in Families from Pakistan
- Maria Maleeha
- Ajmal Muhammad
- Azam Maleeha
- Waheed Nadia Khalida
- Siddiqui Sorath Noorani
- Mustafa Bilal
- Ayub Humaira
- Ali Liaqat
- Ahmad Shakeel
- Micheal Shazia
- Hussain Alamdar
- Shah Syed Tahir Abbas
- Ali Syeda Hafiza Benish
- Ahmed Waqas
- Khan Yar Muhammad
- den Hollander Anneke I.
- Haer-Wigman Lonneke
- Collin Rob W. J.
- Khan Muhammad Imran
- Qamar Raheel
- Cremers Frans P. M.
DOIAbstract
Homozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset that can be used in a cost and time effective manner to screen frequent population-specific genetic variations associated with diseases such as inherited retinal disease (IRD)., in probands from 28 LCA families..Homozygosity mapping and TSS revealed the underlying genetic cause in 13 IRD families, which is useful for genetic counseling as well as therapeutic interventions that are likely to become available in the near future
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