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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer-Verlag

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DOI

10.1007/bf00457563

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1432-1203

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A homozygous mutation in Emphasis Type="Italic"L

Authors: Arun Kumar Maheswara R Duvvari Venkatesh C Prabhakaran Jyoti S Shetty Gowri J Murthy Susan H Blanton
Publish Date: 2010/07/09
Volume: 128, Issue: 4, Pages: 365-371
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Abstract

Microspherophakia is an autosomalrecessive congenital disorder characterized by small spherical lens It may be isolated or occur as part of a hereditary systemic disorder such as Marfan syndrome autosomal dominant and recessive forms of WeillMarchesani syndrome autosomal dominant glaucoma–lens ectopia–microspherophakia–stiffness–shortness syndrome autosomal dominant microspherophakia with hernia and microspherophakiametaphyseal dysplasia The purpose of this study was to map and identify the gene for isolated microspherophakia in two consanguineous Indian families Using a wholegenome linkage scan in one family we identified a likely locus for microspherophakia MSP1 on chromosome 14q241–q3212 between markers D14S588 and D14S1050 in a physical distance of 2276 Mb The maximum multipoint lod score was 291 between markers D14S1020 and D14S606 The MSP1 candidate region harbors 110 reference genes DNA sequence analysis of one of the genes LTBP2 detected a homozygous duplication insertion mutation c5446dupC in the last exon exon 36 in affected family members This homozygous mutation is predicted to elongate the LTBP2 protein by replacing the last 6 amino acids with 27 novel amino acids Microspherophakia in the second family did not map to this locus suggesting genetic heterogeneity The present study suggests a role for LTBP2 in the structural stability of ciliary zonules and growth and development of lensWe thank the patients and their family members for participation in this study We also thank Dr Sudha and Dr Chandra Kumar for help in patient recruitment This work was funded by the Indian Institute of Science Bangalore The authors declare that the experiments comply with the current laws of the country

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