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Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria.

Abstract : Congenital microcoria (MCOR) is a rare autosomal-dominant disorder characterized by inability of the iris to dilate owing to absence of dilator pupillae muscle. So far, a dozen MCOR-affected families have been reported worldwide. By using whole-genome oligonucleotide array CGH, we have identified deletions at 13q32.1 segregating with MCOR in six families originating from France, Japan, and Mexico. Breakpoint sequence analyses showed nonrecurrent deletions in 5/6 families. The deletions varied from 35 kbp to 80 kbp in size, but invariably encompassed or interrupted only two genes: TGDS encoding the TDP-glucose 4,6-dehydratase and GPR180 encoding the G protein-coupled receptor 180, also known as intimal thickness-related receptor (ITR). Unlike TGDS which has no known function in muscle cells, GPR180 is involved in the regulation of smooth muscle cell growth. The identification of a null GPR180 mutation segregating over two generations with iridocorneal angle dysgenesis, which can be regarded as a MCOR endophenotype, is consistent with the view that deletions of this gene, with or without the loss of elements regulating the expression of neighboring genes, are the cause of MCOR.
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Submitted on : Tuesday, September 15, 2015 - 10:08:51 AM
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Long-term archiving on: : Tuesday, December 29, 2015 - 6:59:42 AM

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Lucas Fares-Taie, Sylvie Gerber, Akihiko Tawara, Arturo Ramirez-Miranda, Jean-Yves Douet, et al.. Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria.. American Journal of Human Genetics, Elsevier (Cell Press), 2015, 96 (4), pp.631-639. ⟨10.1016/j.ajhg.2015.01.014⟩. ⟨hal-01134461⟩

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