Submicroscopic deletions at 13q32.1 cause congenital microcoria.

doi:10.1016/j.ajhg.2015.01.014

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Article

Submicroscopic deletions at 13q32.1 cause congenital microcoria.

American journal of human genetics - 2 Apr 2015

Fares-Taie Lucas, Gerber Sylvie, Tawara Akihiko, Ramirez-Miranda Arturo, Douet Jean-Yves, Verdin Hannah, Guilloux Antoine, Zenteno Juan C, Kondo Hiroyuki, Moisset Hugo, Passet Bruno, Yamamoto Ken, Iwai Masaru, Tanaka Toshihiro, Nakamura Yusuke, Kimura Wataru, Bole-Feysot Christine, Vilotte Marthe, Odent Sylvie, Vilotte Jean-Luc, Munnich Arnold, Regnier Alain, Chassaing Nicolas, De Baere Elfride, Raymond-Letron Isabelle, Kaplan Josseline, Calvas Patrick, Roche Olivier, Rozet Jean-Michel

Abstract excerpt

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...

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PMID: 25772937
DOI: 10.1016/j.ajhg.2015.01.014
PMCID: PMC4385178

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