Skip to main content
SpringerLink
Log in

Fine mapping of chromosome 9 locus associated with congenital cataract

  • Original Paper
  • Published:
International Ophthalmology Aims and scope Submit manuscript

Abstract

Purpose

The purpose of this study was to study the molecular basis of inherited autosomal recessive cataracts in Pakistan population and to identify the molecular defect segregating with the disease phenotype.

Methods

Families having two or more affected individuals were identified through hospital, blood samples were collected and DNA was extracted. We employed the traditional strategy of linkage analysis using M13-labeled primers to map the already known genes for autosomal recessive cataract. Statistically, the data were evaluated through LOD score.

Results

Ten families affected with autosomal receive congenital cataract were enrolled for this study. Overall, three families were linked to reported loci for autosomal recessive congenital cataract. Out of these, one family Bl05 was linked to a cataract locus at 9q13. Fine mapping of the chromosome 9 locus considerably delimited the previously reported linkage interval from 13.99 to 7.99 cM in this study.

Conclusion

Our results reduced the linkage interval of previously reported cataract locus on chromosome 9, thus considerably reducing the number of candidate genes.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. Foster A, Johnson GJ (1990) Magnitude and causes of blindness in the developing world. Int Ophthalmol 14:135–140

    Article  PubMed  CAS  Google Scholar 

  2. Wang L, Lin H, Shen Y, Huang S, Gu J, Su H, Qi Y (2007) A new locus for inherited nuclear cataract mapped to the long arm of chromosome 1. Mol Vis 13:1357–1362

    PubMed  CAS  Google Scholar 

  3. Butt T, Yao W, Kaul H, Xiaodong J, Gradstein L, Zhang Y, Husnain T, Riazuddin S, Hejtmancik JF, Riazuddin SA (2007) Localization of autosomal recessive congenital cataracts in consanguineous Pakistani families to a new locus on chromosome 1p. Mol Vis 13:1635–1640

    PubMed  CAS  Google Scholar 

  4. Chen J, Ma Z, Jiao X, Fariss R, Kantorow WL, Kantorow M, Pras E, Frydman M, Pras E, Riazuddin S, Riazuddin SA (2011) Hejtmancik JF (2011) Mutations in FYCO1 cause autosomal-recessive congenital cataracts. Am J Hum Genet 88:827–838

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  5. Cohen D, Bar-Yosef U, Levy J, Gradstein L, Belfair N, Ofir R, Joshua S, Lifshitz T, Carmi R, Birk OS (2007) Homozygous CRYBB1 deletion mutation underlies autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci 48:2208–2213

    Article  PubMed  Google Scholar 

  6. Heon E, Paterson AD, Fraser M, Billingsley G, Priston M, Balmer A, Schorderet DF, Verner A, Hudson TJ, Munier FL (2001) A progressive autosomal recessive cataract locus maps to chromosome 9q13–q22. Am J Hum Genet 68:772–777

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  7. Kaul H, Riazuddin SA, Shahid M, Kousar S, Butt NH, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S (2010) Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family. Mol Vis 16:511–517

    PubMed  PubMed Central  CAS  Google Scholar 

  8. Kaul H, Riazuddin SA, Yasmeen A, Mohsin S, Khan M, Nasir IA, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S (2010) A new locus for autosomal recessive congenital cataract identified in a Pakistani family. Mol Vis 16:240–245

    PubMed  PubMed Central  CAS  Google Scholar 

  9. Ponnam SP, Ramesha K, Tejwani S, Ramamurthy B, Kannabiran C (2007) Mutation of the gap junction protein alpha 8 (GJA8) gene causes autosomal recessive cataract. J Med Genet 44:e85

    Article  PubMed  PubMed Central  Google Scholar 

  10. Pras E, Frydman M, Levy-Nissenbaum E, Bakhan T, Raz J, Assia EI, Goldman B, Pras E (2000) A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family. Invest Ophthalmol Vis Sci 41:3511–3515

    PubMed  CAS  Google Scholar 

  11. Pras E, Levy-Nissenbaum E, Bakhan T, Lahat H, Assia E, Geffen-Carmi N, Frydman M, Goldman B, Pras E (2002) A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family. Am J Hum Genet 70:1363–1367

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  12. Pras E, Raz J, Yahalom V, Frydman M, Garzozi HJ, Pras E, Hejtmancik JF (2004) A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts. Invest Ophthalmol Vis Sci 45:1940–1945

    Article  PubMed  Google Scholar 

  13. Ramachandran RD, Perumalsamy V, Hejtmancik JF (2007) Autosomal recessive juvenile onset cataract associated with mutation in BFSP1. Hum Genet 121:475–482

    Article  PubMed  CAS  Google Scholar 

  14. Riazuddin SA, Yasmeen A, Zhang Q, Yao W, Sabar MF, Ahmed Z, Riazuddin S, Hejtmancik JF (2005) A new locus for autosomal recessive nuclear cataract mapped to chromosome 19q13 in a Pakistani family. Invest Ophthalmol Vis Sci 46:623–626

    Article  PubMed  Google Scholar 

  15. Riazuddin SA, Yasmeen A, Yao W, Sergeev YV, Zhang Q, Zulfiqar F, Riaz A, Riazuddin S, Hejtmancik JF (2005) Mutations in betaB3-crystallin associated with autosomal recessive cataract in two Pakistani families. Invest Ophthalmol Vis Sci 46:2100–2106

    Article  PubMed  Google Scholar 

  16. Sabir N, Riazuddin SA, Kaul H, Iqbal F, Nasir IA, Zafar AU, Qazi ZA, Butt NH, Khan SN, Husnain T, Hejtmancik JF, Riazuddin S (2010) Mapping of a novel locus associated with autosomal recessive congenital cataract to chromosome 8p. Mol Vis 16:2911–2915

    PubMed  PubMed Central  CAS  Google Scholar 

  17. Sabir N, Riazuddin SA, Butt T, Iqbal F, Nasir IA, Zafar AU, Qazi ZA, Butt NH, Khan SN, Husnain T, Hejtmancik JF, Riazuddin S (2010) Mapping of a new locus associated with autosomal recessive congenital cataract to chromosome 3q. Mol Vis 16:2634–2638

    PubMed  PubMed Central  CAS  Google Scholar 

  18. Smaoui N, Beltaief O, BenHamed S, M’Rad R, Maazoul F, Ouertani A, Chaabouni H, Hejtmancik JF (2004) A homozygous splice mutation in the HSF4 gene is associated with an autosomal recessive congenital cataract. Invest Ophthalmol Vis Sci 45:2716–2721

    Article  PubMed  Google Scholar 

  19. Grimberg J, Nawoschik S, Belluscio L, McKee R, Turck A, Eisenberg A (1989) A simple and efficient non-organic procedure for the isolation of genomic DNA from blood. Nucleic Acids Res 17:8390

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  20. Schuelke M (2000) An economic method for the fluorescent labeling of PCR fragments. Nat Biotechnol 18(2):233–234

    Article  PubMed  CAS  Google Scholar 

  21. Kaul H, Suman M, Khan Z, Ullah I, Ashfaq UA, Idrees S (2016) Missense mutation in SLC4A11 in two Pakistani families affected with congenital hereditary endothelial dystrophy (CHED2). Clin Exp Optom 99(1):73–77

    Article  PubMed  Google Scholar 

  22. Rahi JS, Dezateux C (2000) Congenital and infantile cataract in the United Kingdom: underlying or associated factors. British Congenital Cataract Interest Group. Invest Ophthalmol Vis Sci 41(8):2108–2114

    PubMed  CAS  Google Scholar 

  23. Irum B, Khan SY, Ali M, Kaul H, Kabir F, Rauf B, Fatima F, Nadeem R, Khan AO, Al Obaisi S, Naeem MA, Nasir IA, Khan SN, Husnain T, Riazuddin S, Akram J, Eghrari AO, Riazuddin SA, Yan Y-B (2016) Mutation in LIM2 is responsible for autosomal recessive congenital cataracts. PLOS ONE 11(11):e0162620

Download references

Acknowledgements

The authors are thankful to the families for their participation in the study and the LRBT for help in clinical investigations. The authors are also thankful to Higher Education Commission (HEC) Islamabad, Pakistan, for partly supporting this study.

Author information

Authors and Affiliations

  1. Genetics Division, Department of Livestock Production, Faculty of Animal Production and Technology, University of Veterinary and Animal Sciences, Ravi Campus, Pattoki, Pakistan

    Haiba Kaul

  2. Department of Biochemistry, University of Health Sciences, Lahore, Pakistan

    Shabbir Hussain

  3. Department of Haematology, University of Health Sciences, Lahore, Pakistan

    Ghulam Mustafa

  4. Department of Zoology, Lahore College for Women University, Lahore, Pakistan

    Shagufta Naz

Authors
  1. Haiba Kaul
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Shabbir Hussain
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Ghulam Mustafa
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Shagufta Naz
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Haiba Kaul.

Ethics declarations

Conflict of interest

Authors disclose no conflict of interest.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Kaul, H., Hussain, S., Mustafa, G. et al. Fine mapping of chromosome 9 locus associated with congenital cataract. Int Ophthalmol 38, 1187–1192 (2018). https://doi.org/10.1007/s10792-017-0581-8

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10792-017-0581-8

Keywords

Search

Navigation