May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Confirmation of a Locus for Primary Congenital Glaucoma (PCG) on Chromosome 14q24 in a Pakistani Pedigree
Author Affiliations & Notes
  • A. P. Booth
    Leeds Institute of Molecular Medicine, Section of Ophthalmology and Neuroscience, Leeds, United Kingdom
    Peninsula Medical School, Plymouth, United Kingdom
  • A.-L. Murphy
    Leeds Institute of Molecular Medicine, Section of Ophthalmology and Neuroscience, Leeds, United Kingdom
  • G. Williams
    Leeds Institute of Molecular Medicine, Section of Ophthalmology and Neuroscience, Leeds, United Kingdom
  • M. Ali
    Leeds Institute of Molecular Medicine, Section of Ophthalmology and Neuroscience, Leeds, United Kingdom
  • C. Toomes
    Leeds Institute of Molecular Medicine, Section of Ophthalmology and Neuroscience, Leeds, United Kingdom
  • H. Jaffri
    Shadman Jail Road, Gene Tech Lab 146/1, Lahore, Pakistan
  • Y. Rashid
    King Edward Medical University, Department of Obstetrics and Gynaecology, Lahore, Pakistan
  • M. McKibbin
    Leeds Institute of Molecular Medicine, Section of Ophthalmology and Neuroscience, Leeds, United Kingdom
    Department of Ophthalmology, St James's University Hospital, United Kingdom
  • C. Inglehearn
    Leeds Institute of Molecular Medicine, Section of Ophthalmology and Neuroscience, Leeds, United Kingdom
  • Footnotes
    Commercial Relationships  A.P. Booth, None; A. Murphy, None; G. Williams, None; M. Ali, None; C. Toomes, None; H. Jaffri, None; Y. Rashid, None; M. McKibbin, None; C. Inglehearn, None.
  • Footnotes
    Support  We thank the Wellcome Trust (project grant number 073477) and Yorkshire Eye Research grant number 006 for funding
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 5123. doi:https://doi.org/
  • Views
  • Share
  • Tools
    • Alerts
      ×
      This feature is available to authenticated users only.
      Sign In or Create an Account ×
    • Get Citation

      A. P. Booth, A.-L. Murphy, G. Williams, M. Ali, C. Toomes, H. Jaffri, Y. Rashid, M. McKibbin, C. Inglehearn; Confirmation of a Locus for Primary Congenital Glaucoma (PCG) on Chromosome 14q24 in a Pakistani Pedigree. Invest. Ophthalmol. Vis. Sci. 2008;49(13):5123. doi: https://doi.org/.

      Download citation file:


      © ARVO (1962-2015); The Authors (2016-present)

      ×
  • Supplements
Abstract

Purpose: : Primary congenital glaucoma (PCG) has been linked to two loci, 2p21 (GLC3A) where the responsible gene is CYP1B1, and 1p36 (GLC3B) for which the gene involved remains to be identified. In addition a third locus was described on chromosome 14q24 (GLC3C) in a Turkish family (Stoilov and Sarfarazi, IOVS, 2002, E-Abstract 3015), but this finding has not yet been confirmed in a peer-reviewed paper. PCG is inherited as an autosomal recessive disease and is particularly prevalent in communities where marriage to a relative is a common practice. The purpose of this study was to investigate the genetic basis and phenotype of PCG in a consanguineous Pakistani pedigree.

Methods: : A three generation, consanguineous family from the Punjab province of Northern Pakistan was investigated. Four affected and six unaffected members from two generations underwent ophthalmic examination. DNA was extracted from venous blood samples. A mixed sample containing DNA from the four affected individuals was analysed on a single Affymetrix SNP array and the results were examined for large regions of homozygosity. Linkage was confirmed using highly informative microsatellite markers genotyped on ABI 3130 DNA Analyser.

Results: : Affected family members showed the typical findings of PCG, namely tearing and photophobia from birth, significantly raised IOP at presentation (up to 56mmHg), and buphthalmos (corneal diameters up to 15mmHg). Most had undergone multiple surgeries but had been left with visual acuities of Count Fingers at best.SNP analysis excluded linkage to either GLC3A or GLC3B. However, homozygosity on chromosome 14q24 implicated the GLC3C locus. Microsatellite markers confirmed linkage with a lod score of > 4, with markers D14S277, D14S1047, D14S61, D14S53 and D14S983 all homozygous. A proximal crossover was detected at D14S258.

Conclusions: : These findings confirm the existence of a third locus for PCG on 14q24 (GLC3C) in a second family. The different ethnic origins of the two linked families suggest different mutations will be involved in each. Candidate gene screening is now being performed in order to identify the responsible gene.

Keywords: gene mapping • genetics 
×
×

This PDF is available to Subscribers Only

Sign in or purchase a subscription to access this content. ×

You must be signed into an individual account to use this feature.

×