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Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.

Abstract To identify the genetic origins of autosomal recessive congenital cataracts (arCC) in the Pakistani population.
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Journal Title investigative ophthalmology & visual science
Publication Year Start




PMID- 28418495
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  - Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive
      Congenital Cataracts by Homozygosity Screening.
PG  - 2207-2217
LID - 10.1167/iovs.17-21469 [doi]
AB  - Purpose: To identify the genetic origins of autosomal recessive congenital
      cataracts (arCC) in the Pakistani population. Methods: Based on the hypothesis
      that most arCC patients in consanguineous families in the Punjab areas of
      Pakistan should be homozygous for causative mutations, affected individuals were 
      screened for homozygosity of nearby highly informative microsatellite markers and
      then screened for pathogenic mutations by DNA sequencing. A total of 83 unmapped 
      consanguineous families were screened for mutations in 33 known candidate genes. 
      Results: Patients in 32 arCC families were homozygous for markers near at least 1
      of the 33 known CC genes. Sequencing the included genes revealed homozygous
      cosegregating sequence changes in 10 families, 2 of which had the same variation.
      These included five missense, one nonsense, two frame shift, and one splice site 
      mutations, eight of which were novel, in EPHA2, FOXE3, FYCO1, TDRD7, MIP, GALK1, 
      and CRYBA4. Conclusions: The above results confirm the usefulness of homozygosity
      mapping for identifying genetic defects underlying autosomal recessive disorders 
      in consanguineous families. In our ongoing study of arCC in Pakistan, including
      83 arCC families that underwent homozygosity mapping, 3 mapped using genome-wide 
      linkage analysis in unpublished data, and 30 previously reported families,
      mutations were detected in approximately 37.1% (43/116) of all families studied, 
      suggesting that additional genes might be responsible in the remaining families. 
      The most commonly mutated gene was FYCO1 (14%), followed by CRYBB3 (5.2%), GALK1 
      (3.5%), and EPHA2 (2.6%). This provides the first comprehensive description of
      the genetic architecture of arCC in the Pakistani population.
FAU - Chen, Jianjun
AU  - Chen J
AD  - Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National 
      Institutes of Health, Bethesda, Maryland, United States 2Department of
      Ophthalmology, Shanghai Tenth People's Hospital, and Tongji Eye Institute, Tongji
      University School of Medicine, Shanghai, China.
FAU - Wang, Qiwei
AU  - Wang Q
AD  - Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National 
      Institutes of Health, Bethesda, Maryland, United States 3State Key Laboratory of 
      Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou,
      Guangdong, China.
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 - Zhong, Zilin
AU  - Zhong Z
AD  - Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National 
      Institutes of Health, Bethesda, Maryland, United States 2Department of
      Ophthalmology, Shanghai Tenth People's Hospital, and Tongji Eye Institute, Tongji
      University School of Medicine, Shanghai, 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 3State Key Laboratory of 
      Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou,
      Guangdong, China.
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 - Chen, Yabin
AU  - Chen Y
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 - 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 - Ali, Muhammad Hassaan
AU  - Ali MH
AD  - Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan.
FAU - Assir, Muhammad Zaman
AU  - Assir MZ
AD  - Allama Iqbal Medical College, University of Health Sciences, Lahore, Pakistan.
FAU - Rahman, Fawad Ur
AU  - Rahman FU
AD  - Layton Rahmatulla Benevolent Trust Hospital, Lahore, Pakistan.
FAU - Qazi, Zaheeruddin A
AU  - Qazi ZA
AD  - Layton Rahmatulla Benevolent Trust Hospital, Lahore, Pakistan.
FAU - Riazuddin, Sheikh
AU  - Riazuddin S
AD  - National Centre of Excellence in Molecular Biology, University of the Punjab,
      Lahore, Pakistan 5Allama Iqbal Medical College, University of Health Sciences,
      Lahore, Pakistan 7National 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
      7National Centre for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical
      University, Islamabad, Pakistan.
FAU - Riazuddin, S Amer
AU  - Riazuddin SA
AD  - The Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore,
      Maryland, United States 9McKusick-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 - 2619437 [pii]
AID - 10.1167/iovs.17-21469 [doi]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2207-2217. doi:
      10.1167/iovs.17-21469.

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