English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/188863
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Exportar a otros formatos:


MRX93 syndrome (BRWD3 gene): five new patients with novel mutations

AuthorsTenorio, Jair; Alarcón, Pedro; Arias, Pedro; Ramos, Feliciano J.; Campistol, Jaume; Climent, Salvador; García-Miñaur, Sixto; Dapía, Irene; Hernández, Alicia; Nevado, Julian; Solís, Mario; Ruiz-Pérez, Victor L. ; Sogri Consortium; Lapunzina, Pablo
Bromodomain proteins
X-linked disorder
XMR93 syndrome
Intellectual disability
Issue Date2019
PublisherJohn Wiley & Sons
CitationClinical Genetics 95(6): 726-731 (2019)
AbstractOvergrowth syndromes (OGS) comprise a heterogeneous group of disorders whose main characteristic is that either the weight, height, or head circumference are above the 97th centile or 2 to 3 SD above the mean for age and sex. Additional features, such as facial dysmorphism, developmental delay or intellectual disability (ID), congenital anomalies, neurological problems and an increased risk of neoplasia are usually associated with OGS. Genetic analysis in patients with overlapping clinical features is essential, to distinguish between two or more similar conditions, and to provide appropriate genetic counseling and recommendations for follow up. In the present paper, we report five new patients (from four unrelated families) with an X-linked mental retardation syndrome with overgrowth (XMR93 syndrome), also known as XLID-BRWD3-related syndrome. The main features of these patients include ID, macrocephaly and dysmorphic facial features. XMR93 syndrome is a recently described disorder caused by mutations in the Bromodomain and WD-repeat domain-containing protein 3 (BRWD3) gene. This article underscores the importance of genetic screening by exome sequencing for patients with OGS and ID with unclear clinical diagnosis, and expands the number of reported individuals with XMR93 syndrome, highlighting the clinical features of this unusual disease.
Publisher version (URL)https://doi.org/10.1111/cge.13504
Appears in Collections:(IIBM) Artículos
Files in This Item:
File Description SizeFormat 
accesoRestringido.pdf59,24 kBAdobe PDFThumbnail
accesoRestringido.pdf59,24 kBAdobe PDFThumbnail
Show full item record
Review this work

Related articles:

WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.