Literature DB >> 9545411

Mapping of a congenital microcoria locus to 13q31-q32.

C Rouillac1, O Roche, D Marchant, L Bachner, A Kobetz, P J Toulemont, C Orssaud, M Urvoy, S Odent, B Le Marec, M Abitbol, J L Dufier.   

Abstract

Congenital microcoria is an autosomal dominant disorder characterized by a pupil with a diameter <2 mm. It is thought to be due to a maldevelopment of the dilator pupillae muscle of the iris, and it is associated with juvenile-onset glaucoma. A total genome search for the location of the congenital microcoria gene was launched in a single large family. We found linkage between the disease and markers located on 13q31-q32 (Zmax = 9.79; theta = 0). Haplotype analysis narrowed the linked region to an interval <8 cM between markers D13S1239 proximally and D13S1280 distally.

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Mesh：

Year:  1998        PMID： 9545411      PMCID： PMC1377098          DOI： 10.1086/301841

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  30 in total

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Journal:  Case Rep Ophthalmol       Date:  2011-05-13
  6 in total

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