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Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.

Abstract The Pakistan Punjab population has been a rich source for identifying genes causing or contributing to autosomal recessive retinal degenerations (arRD). This study was carried out to delineate the genetic architecture of arRD in the Pakistani population.
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Journal Title investigative ophthalmology & visual science
Publication Year Start




PMID- 28418496
OWN - NLM
STAT- In-Process
DA  - 20170418
LR  - 20170418
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Linking)
VI  - 58
IP  - 4
DP  - 2017 Apr 01
TI  - Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal
      Dystrophies in 144 Consanguineous Pakistani Families.
PG  - 2218-2238
LID - 10.1167/iovs.17-21424 [doi]
AB  - Purpose: The Pakistan Punjab population has been a rich source for identifying
      genes causing or contributing to autosomal recessive retinal degenerations
      (arRD). This study was carried out to delineate the genetic architecture of arRD 
      in the Pakistani population. Methods: The genetic origin of arRD in a total of
      144 families selected only for having consanguineous marriages and multiple
      members affected with arRD was examined. Of these, causative mutations had been
      identified in 62 families while only the locus had been identified for an
      additional 15. The remaining 67 families were subjected to homozygosity exclusion
      mapping by screening of closely flanking microsatellite markers at 180 known
      candidate genes/loci followed by sequencing of the candidate gene for pathogenic 
      changes. Results: Of these 67 families subjected to homozygosity mapping, 38
      showed homozygosity for at least one of the 180 regions, and sequencing of the
      corresponding genes showed homozygous cosegregating mutations in 27 families.
      Overall, mutations were detected in approximately 61.8 % (89/144) of arRD
      families tested, with another 10.4% (15/144) being mapped to a locus but without 
      a gene identified. Conclusions: These results suggest the involvement of unmapped
      novel genes in the remaining 27.8% (40/144) of families. In addition, this study 
      demonstrates that homozygosity mapping remains a powerful tool for identifying
      the genetic defect underlying genetically heterogeneous arRD disorders in
      consanguineous marriages for both research and clinical applications.
FAU - Li, Lin
AU  - Li L
AD  - Department of Ophthalmology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong
      University School of Medicine, Shanghai, China 2Ophthalmic Genetics and Visual
      Function Branch, National Eye Institute, National Institutes of Health, Bethesda,
      Maryland, United States.
FAU - Chen, Yabin
AU  - Chen Y
AD  - Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National 
      Institutes of Health, Bethesda, Maryland, United States.
FAU - Jiao, Xiaodong
AU  - Jiao X
AD  - Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National 
      Institutes of Health, Bethesda, Maryland, United States.
FAU - Jin, Chongfei
AU  - Jin C
AD  - Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National 
      Institutes of Health, Bethesda, Maryland, United States 3Department of Medicine, 
      Brookdale University Hospital and Medical Center, New York, New York, United
      States.
FAU - Jiang, Dan
AU  - Jiang D
AD  - Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National 
      Institutes of Health, Bethesda, Maryland, United States.
FAU - Tanwar, Mukesh
AU  - Tanwar M
AD  - Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National 
      Institutes of Health, Bethesda, Maryland, United States 4Department of Genetics, 
      Maharshi Dayanand University Rohtak, Haryana, India.
FAU - Ma, Zhiwei
AU  - Ma Z
AD  - Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National 
      Institutes of Health, Bethesda, Maryland, United States.
FAU - Huang, Li
AU  - Huang L
AD  - Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National 
      Institutes of Health, Bethesda, Maryland, United States 5State Key Laboratory of 
      Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou,
      Guangdong, China.
FAU - Ma, Xiaoyin
AU  - Ma X
AD  - Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National 
      Institutes of Health, Bethesda, Maryland, United States 6Laboratory of
      Developmental Cell Biology and Disease, School of Ophthalmology and Optometry and
      Eye Hospital, Wenzhou Medical University, Wenzhou, China.
FAU - Sun, Wenmin
AU  - Sun W
AD  - Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National 
      Institutes of Health, Bethesda, Maryland, United States 5State Key Laboratory of 
      Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou,
      Guangdong, China.
FAU - Chen, Jianjun
AU  - Chen J
AD  - Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National 
      Institutes of Health, Bethesda, Maryland, United States 7Department of
      Ophthalmology, Shanghai Tenth People's Hospital, and Tongji Eye Institute, Tongji
      University School of Medicine, Shanghai, China.
FAU - Ma, Yan
AU  - Ma Y
AD  - Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National 
      Institutes of Health, Bethesda, Maryland, United States.
FAU - M'hamdi, Oussama
AU  - M'hamdi O
AD  - Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National 
      Institutes of Health, Bethesda, Maryland, United States.
FAU - Govindarajan, Gowthaman
AU  - Govindarajan G
AD  - Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National 
      Institutes of Health, Bethesda, Maryland, United States.
FAU - Cabrera, Patricia E
AU  - Cabrera PE
AD  - Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National 
      Institutes of Health, Bethesda, Maryland, United States.
FAU - Li, Jiali
AU  - Li J
AD  - Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National 
      Institutes of Health, Bethesda, Maryland, United States 5State Key Laboratory of 
      Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou,
      Guangdong, China.
FAU - Gupta, Nikhil
AU  - Gupta N
AD  - Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National 
      Institutes of Health, Bethesda, Maryland, United States.
FAU - Naeem, Muhammad Asif
AU  - Naeem MA
AD  - National Centre of Excellence in Molecular Biology, University of the Punjab,
      Lahore, Pakistan.
FAU - Khan, Shaheen N
AU  - Khan SN
AD  - National Centre of Excellence in Molecular Biology, University of the Punjab,
      Lahore, Pakistan.
FAU - Riazuddin, Sheikh
AU  - Riazuddin S
AD  - National Centre of Excellence in Molecular Biology, University of the Punjab,
      Lahore, Pakistan 9Allama Iqbal Medical College, University of Health Sciences,
      Lahore, Pakistan 10National Centre for Genetic Diseases, Shaheed Zulfiqar Ali
      Bhutto Medical University, Islamabad, Pakistan.
FAU - Akram, Javed
AU  - Akram J
AD  - Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan
      10National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical
      University, Islamabad, Pakistan.
FAU - Ayyagari, Radha
AU  - Ayyagari R
AD  - Shiley Eye Institute, University of California-San Diego, La Jolla, California,
      United States.
FAU - Sieving, Paul A
AU  - Sieving PA
AD  - National Eye Institute, National Institutes of Health, Bethesda, Maryland, United
      States.
FAU - Riazuddin, S Amer
AU  - Riazuddin SA
AD  - The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore,
      Maryland, United States 14McKusick-Nathans Institute of Genetic Medicine, Johns
      Hopkins University School of Medicine, Baltimore, Maryland, United States.
FAU - Hejtmancik, J Fielding
AU  - Hejtmancik JF
AD  - Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National 
      Institutes of Health, Bethesda, Maryland, United States.
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
EDAT- 2017/04/19 06:00
MHDA- 2017/04/19 06:00
CRDT- 2017/04/19 06:00
AID - 2619438 [pii]
AID - 10.1167/iovs.17-21424 [doi]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2218-2238. doi:
      10.1167/iovs.17-21424.

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