English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/129541
Share/Impact:
Statistics
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:

Title

Deletion 1q43-44 in a patient with clinical diagnosis of Warburg-Micro syndrome

AuthorsArroyo-Carrera, Ignacio; Gómez-Skarmeta, José Luis ; Martínez-Frías, María Luisa
KeywordsWarburg–Micro syndrome
Genes related with vesicular transport
WARBM
Del 1q43-q44
Issue Date2015
PublisherJohn Wiley & Sons
CitationAmerican Journal of Medical Genetics - Part A 167(6): 1243-1251 (2015)
AbstractWarburg-Micro syndrome (WARBM) is an autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy and central nervous system malformations. This syndrome is caused by mutations in the RAB3GAP1/2 and RAB18 genes, part of the Rab family, and in the TBC1D20 gene, which contributes to lipid droplet formation/metabolism. Here we present a patient with clinical diagnosis of WARBM syndrome, who did not have mutations in either the RAB3GAP1/2 genes, in the main exons of RAB18, nor in the TBC1D20 gene. However, the analysis with CGH-array detected a 9.6 Mb deletion at 1q43-qter. We performed a genotype-phenotype correlation using 20 previously published patients in whom the coordinates of the deleted regions were defined. The comparative analysis revealed that the current patient and three of the other 20 patients share the loss of six genes, four of which are related with the family of G proteins, and are strongly expressed in the brain, retina, heart and kidney. Consequently, their haploinsufficiency may result in different combinations of clinical alterations, including some of those of WARBM syndrome. In addition, the haploinsufficiency of other genes may contribute to other defects and clinical variability. Additionally, for the genotype-phenotype correlation, one must also consider molecular pathways that can result in the observed alterations. To early confirm a genetic diagnosis is essential for the patient and family. The current patient was considered as having a recessive syndrome, but since he had a >de novo> deletion, there was not an increased recurrence risk.
URIhttp://hdl.handle.net/10261/129541
DOI10.1002/ajmg.a.36878
Identifiersdoi: 10.1002/ajmg.a.36878
e-issn: 1552-4833
issn: 1552-4825
Appears in Collections:(CABD) Artículos
Files in This Item:
File Description SizeFormat 
accesoRestringido.pdf15,38 kBAdobe PDFThumbnail
View/Open
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.