Article
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.
American journal of human genetics - 11 Jul 2013
Thauvin-Robinet Christel, Auclair Martine, Duplomb Laurence, Caron-Debarle Martine, Avila Magali, St-Onge Judith, Le Merrer Martine, Le Luyer Bernard, Héron Delphine, Mathieu-Dramard Michèle, Bitoun Pierre, Petit Jean-Michel, Odent Sylvie, Amiel Jeanne, Picot Damien, Carmignac Virginie, Thevenon Julien, Callier Patrick, Laville Martine, Reznik Yves, Fagour Cédric, Nunes Marie-Laure, Capeau Jacqueline, Lascols Olivier, Huet Frédéric, Faivre Laurence, Vigouroux Corinne, Rivière Jean-Baptiste
Abstract excerpt
Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome is a developmental disorder with an unknown genetic cause and hallmarks that include insulin resistance and lack of subcutaneous fat. We ascertained two unrelated individuals with SHORT syndrome, hypothesized that the observed phenotype was most likely due to de novo mutations...
Topics
- DNA Mutational Analysis
- Exome
- Female
- Fibroblasts
- Genetic Predisposition to Disease
- Gestational Age
- Glucose
- Growth Disorders