| Title | A New Overgrowth Syndrome is Due to Mutations in RNF125. |
| Publication Type | Journal Article |
| Year of Publication | 2014 |
| Authors | Tenorio, J, Mansilla, A, Valencia, M, Martínez-Glez, V, Romanelli, V, Arias, P, Castrejón, N, Poletta, F, Guillén-Navarro, E, Gordo, G, Mansilla, E, García-Santiago, F, González-Casado, I, Vallespín, E, Palomares, M, Mori, MA, Santos-Simarro, F, García-Miñaur, S, Fernández, L, Mena, R, Benito-Sanz, S, Del Pozo, A, Silla, JCarlos, Ibañez, K, López-Granados, E, Martín-Trujillo, A, Montaner, D, Heath, KE, Campos-Barros, A, Dopazo, J, Nevado, J, Monk, D, Ruiz-Pérez, VL, Lapunzina, P |
| Journal | Human mutation |
| Volume | 35 |
| Pagination | 1436–1441 |
| Date Published | 2014 Sep 5 |
| ISSN | 1098-1004 |
| Keywords | NGS; prioritization; Rare Disease |
| Abstract | Overgrowth syndromes (OGS) are a group of disorders in which all parameters of growth and physical development are above the mean for age and sex. We evaluated a series of 270 families from the Spanish Overgrowth Syndrome Registry with no known overgrowth syndrome. We identified one de novo deletion and three missense mutations in RNF125 in six patients from 4 families with overgrowth, macrocephaly, intellectual disability, mild hydrocephaly, hypoglycaemia and inflammatory diseases resembling Sjögren syndrome. RNF125 encodes an E3 ubiquitin ligase and is a novel gene of OGS. Our studies of the RNF125 pathway point to upregulation of RIG-I-IPS1-MDA5 and/or disruption of the PI3K-AKT and interferon signaling pathways as the putative final effectors. This article is protected by copyright. All rights reserved. |
| URL | http://onlinelibrary.wiley.com/doi/10.1002/humu.22689/abstract |
| DOI | 10.1002/humu.22689 |
