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Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria.

Lucas Fares-Taie 1 Sylvie Gerber 1 Akihiko Tawara 2 Arturo Ramirez-Miranda 3 Jean-Yves Douet 4 Hannah Verdin 5 Antoine Guilloux 1 Juan C Zenteno 3 Hiroyuki Kondo 2 Hugo Moisset 1 Bruno Passet 6 Ken Yamamoto 7 Masaru Iwai 8, 9, 10 Toshihiro Tanaka 11, 12 Yusuke Nakamura 13 Wataru Kimura 14 Christine Bole-Feysot 15 Marthe Vilotte 6 Sylvie Odent 16, 17 Jean-Luc Vilotte 6 Arnold Munnich 1 Alain Regnier 4 Nicolas Chassaing 18 Elfride de Baere 5 Isabelle Raymond-Letron 4 Josseline Kaplan 1 Patrick Calvas 18 Olivier Roche 19 Jean-Michel Rozet 1
1 IMAGINE - U1163 - Imagine - Institut des maladies génétiques
2 UEOH - University of Occupational and Environmental Health [Kitakyushu]
3 Instituto de Oftalmologia Fundacion Conde de la Valenciana AC
4 ENVT - Ecole Nationale Vétérinaire de Toulouse
5 Center for Medical Genetics [Ghent]
6 GABI - Génétique Animale et Biologie Intégrative
7 Kyushu University [Fukuoka]
8 Ehime University [Matsuyama]
9 Ehime University Graduate School of Medecine
10 Ehime Medical Center
11 Tokyo Medical and Dental University
12 RIKEN IMS - Laboratory for Cardiovascular Genomics and Informatics [Yokohama]
13 University of Chicago
14 Kimura Eye Clinic
15 Plateforme de génomique [SFR Necker]
SFR Necker - UMS 3633 / US24 - Structure Fédérative de Recherche Necker
16 CHU Pontchaillou [Rennes]
17 IGDR - Institut de Génétique et Développement de Rennes
18 Centre Hospitalier Universitaire de Toulouse
19 CHU Necker - Enfants Malades [AP-HP]
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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https://hal-univ-rennes1.archives-ouvertes.fr/hal-01134461
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Submitted on : Tuesday, September 15, 2015 - 10:08:51 AM
Last modification on : Saturday, January 9, 2021 - 3:39:40 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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