Document Details

Document Type : Article In Journal 
Document Title :
Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder
Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder
 
Document Language : English 
Abstract : The few proximal 4q chromosomal aberrations identified in patients with neurodevelopmental phenotypes that have been published to date are variable in type, size and breakpoints and, therefore, encompass different chromosome bands and genes, making the establishment of genotype-phenotype correlations a challenging task. Here, microarray-based copy number analysis allowed us the detection of two novel and partially overlapping deletions in two unrelated families. In Family 1, a 4q13.1-q13.2 deletion of 3.84 Mb was identified in a mother with mild intellectual disability and in her two children, both with mild intellectual disability and attention deficit hyperactivity disorder. In Family 2, a de novo 4q13.2-q13.3 deletion of 6.81 Mb was detected in a female patient, born to unaffected parents, with a diagnosis of mild intellectual disability, behavioral disorder and facial dysmorphism. The shortest region of overlap between these two aberrations is located at chromosome 4q13.2 and includes 17 genes amongst of which we suggest UBA6 (ubiquitin-like modifier-activating enzyme 6) as a strong candidate gene for these phenotypes 
ISSN : 1552-4833 
Journal Name : Am J Med Genet A 
Volume : 167 
Issue Number : 12 
Publishing Year : 1436 AH
2015 AD 
Article Type : Article 
Added Date : Wednesday, April 27, 2016 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
Ines QuintelaQuintela, Ines Investigator  
Francisco BarrosBarros, Francisco Researcher  
Montse Fernandez-PrietoFernandez-Prieto, Montse Researcher  
Rocio Martinez-RegueiroMartinez-Regueiro, Rocio Researcher  
Manuel Castro-GagoCastro-Gago, Manuel Researcher  
Angel CarracedoCarracedo, Angel Researcher  
Carmen Gomez-LadoGomez-Lado, Carmen Researcher  
Jesus EirisEiris, Jesus Researcher  

Files

File NameTypeDescription
 38707.pdf pdf 

Back To Researches Page