Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement
Sabrina Méchaussier, Basamat Almoallem, Christina Zeitz, Kristof Van Schil, Laila Jeddawi, Jo Van Dorpe, Alfredo Dueñas Rey, Christel Condroyer, Olivier Pellé, Michel Polak, Nathalie Boddaert, Nadia Bahi‐Buisson, Mara Cavallin, J.-L. Bacquet, Alexandra Mouallem-Bézière, Olivia Zambrowski, José‐Alain Sahel, Isabelle Audo, Josseline Kaplan, Jean‐Michel Rozet, Elfride De Baere, Isabelle Perrault
Abstract
(The American Journal of Human Genetics 106, 859–871; June 4, 2020) In the originally published version of this article, the accession number given for RIMS2α was incorrect. It should have been NM_001348484.1. The number has now been corrected online. The authors regret the error. Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic InvolvementMechaussier et al.The American Journal of Human GeneticsMay 28, 2020In BriefCongenital cone-rod synaptic disorder (CRSD), also known as incomplete congenital stationary night blindness (iCSNB), is a non-progressive inherited retinal disease (IRD) characterized by night blindness, photophobia, and nystagmus, and distinctive electroretinographic features. Here, we report bi-allelic RIMS2 variants in seven CRSD-affected individuals from four unrelated families. Apart from CRSD, neurodevelopmental disease was observed in all affected individuals, and abnormal glucose homeostasis was observed in the eldest affected individual. Full-Text PDF Open Access