Genetic mapping of autosomal recessive microspherophakia to chromosome 14q24.3 in a consanguineous Pakistani family and screening of exon 36 of LTBP2 gene.
Latent transforming growth factor beta binding protein 2 (LTBP2) plays a critical role in the development of connective tissue structure and function. Mutations in gene encoding LTBP2 are known to cause syndromic and a non-syndromic microspherophakia. Here, we present a 'first' report of genetic linkage of microspherophakia (MSP) to LTBP2 locus in a large consanguineous Pakistani family with four affected individuals in three loops. Using polymorphic microsatellite markers, haplotypes and linkage analysis, the diseased phenotype in MSP001 family was mapped to the LTBP2 gene. A maximum two point Logarithm of the odds (LOD) score of 4.16 was obtained with marker D14S284 at θ =0. Mutational analysis of exon 36 of LTBP2 using Sanger's sequencing did not reveal any previously reported mutations. Further analysis of the remaining exons are required to identify the causative variant.
['Shahzadi|Misbah|M|', 'Firasat|Sabika|S|', 'Kaul|Haiba|H|', 'Afshan|Kiran|K|', 'Afzal|Rabia|R|', 'Naz|Shagufta|S|']
D000293:Adolescent D002874:Chromosome Mapping D002883:Chromosomes, Human, Pair 14 D003241:Consanguinity D003316:Corneal Diseases D004479:Ectopia Lentis D005260:Female D005901:Glaucoma D006801:Humans D007498:Iris D053779:Latent TGF-beta Binding Proteins D007906:Lens Subluxation D008297:Male D008487:Medical History Taking D009154:Mutation D009216:Myopia D010154:Pakistan D010375:Pedigree D055815:Young Adult
Microspherophakia, Autosomal recessive, LTBP2, Linkage analysis.