Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity

Kamron Khan, Ahmed Al-Maskari, Martin McKibbin, Ian M. Carr, Adam Booth, Moin Mohamed, Salina Siddiqui, James A. Poulter, David A. Parry, Clara V. Logan, Anwar Hashmi, Tehseen Sahi, Hussain Jafri, Yasmin Raashid, Colin A. Johnson, Alex F. Markham, Carmel Toomes, Aine Rice, Eamonn Sheridan, Chris F. InglehearnManir Ali*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Purpose. To investigate whether three consanguineous families from the Punjab province of Pakistan, with affected members with recessively inherited congenital cataract microcornea with corneal opacity, are genetically homogeneous. Methods. An ophthalmic examination was performed on each family member to establish the diagnosis. The two largest families were analyzed by homozygosity mapping using SNP arrays. Linkage was confirmed using polymorphic microsatellite markers, and logarithm of odds (LOD) scores were calculated. Candidate genes were prioritized using the ENDEAVOUR program. Results. Autosomal recessive congenital cataract-microcornea with corneal opacity mapped to chromosome 10cen for family MEP57 and to either chromosomes 2ptel or 20p for family MEP60. For MEP57, the refined interval was 36.8 Mb flanked by D10S1208 (35.3 Mb) and D10S676 (72.1 Mb). For MEP60, the interval containing the mutation was either 6.7 Mb from the telomere of chromosome 2 to marker D2S281 or 3.8 Mb flanked by D20S906 (1.5 Mb) and D20S835 (5.3 Mb). Maximum multipoint LOD scores of 3.09, 1.94, and 3.09 were calculated at D10S567, D2S281, and D20S473 for families MEP57 and MEP60. Linkage to these loci was excluded for family MEP68. SLC4A11 was excluded as a candidate gene for the observed phenotype in MEP60. Conclusions. The authors have identified two new loci, one on chromosome 10cen and the other on 2ptel or 20p, that are associated with recessively inherited congenital cataract-microcornea with corneal opacity. This phenotype is genetically heterogeneous in the Pakistani population. Further genetic studies of this kind, combined with a detailed phenotypic description, will contribute to more precise classification criteria for anterior segment disease.

Original languageEnglish
Pages (from-to)4294-4299
Number of pages6
JournalInvestigative Ophthalmology & Visual Science (IOVS)
Issue number7
Publication statusPublished - 1 Jun 2011


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