Multiple copy number variants in a pediatric patient with Hb H disease and intellectual disability

2016 ◽  
Vol 170 (4) ◽  
pp. 986-991 ◽  
Author(s):  
Karen G. Scheps ◽  
Liliana Francipane ◽  
Julián Nevado ◽  
Nora Basack ◽  
Myriam Attie ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Pediatric Patient ◽  
Copy Number ◽  
Copy Number Variants ◽  
Multiple Copy ◽  
Hb H Disease

scholarly journals Copy number variants (CNVs) analysis in a deeply phenotyped cohort of individuals with intellectual disability (ID)

2014 ◽  
Vol 15 (1) ◽  
Author(s):  
Ying Qiao ◽  
Eloi Mercier ◽  
Jila Dastan ◽  
Jane Hurlburt ◽  
Barbara McGillivray ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Copy Number ◽  
Copy Number Variants

Genomic Syndromes in Schizophrenia

2013 ◽  
pp. 247-255
Author(s):  
George Kirov ◽  
Michael C. O’Donovan ◽  
Michael J. Owen
Keyword(s):  
Intellectual Disability ◽  
Developmental Delay ◽  
Neurodevelopmental Disorders ◽  
Copy Number ◽  
De Novo ◽  
Copy Number Variants ◽  
Individual Risk ◽  
Genomic Deletions ◽  
Pathogenic Cnvs ◽  
Cognition And Learning

Several submicroscopic genomic deletions and duplications known as copy number variants (CNVs) have been reported to increase susceptibility to schizophrenia. Those for which the evidence is particularly strong include deletions at chromosomal segments 1q21.1, 3q29, 15q11.2, 15q13.3, 17q12 and 22q11.2, duplications at 15q11.2-q13.1, 16p13.1, and 16p11.2, and deletions atthe gene NRXN1. The effect of each on individual risk is relatively large, but it does not appear that any of them is alone sufficient to cause disorder in carriers. These CNVs often arise as new mutations(de novo). Analyses of genes enriched among schizophrenia implicated CNVs highlight the involvement in the disorder of post-synaptic processes relevant to glutamatergicsignalling, cognition and learning. CNVs that contribute to schizophrenia risk also contribute to other neurodevelopmental disorders, including intellectual disability, developmental delay and autism. As a result of selection, all known pathogenic CNVs are rare, and none makes a sizeable contribution to overall population risk of schizophrenia, although the study of these mutations is nevertheless providing important insights into the origins of the disorder.

scholarly journals Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

Neurology ◽  
2013 ◽  
Vol 81 (17) ◽  
pp. 1507-1514 ◽  
Author(s):  
S. A. Mullen ◽  
G. L. Carvill ◽  
S. Bellows ◽  
M. A. Bayly ◽  
S. F. Berkovic ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Copy Number ◽  
Copy Number Variants ◽  
Generalized Epilepsy

scholarly journals What a psychiatrist needs to know about copy number variants

2015 ◽  
Vol 21 (3) ◽  
pp. 157-163 ◽  
Author(s):  
George Kirov ◽  
Elliott Rees ◽  
James Walters
Keyword(s):  
Risk Factors ◽  
Intellectual Disability ◽  
Neurodevelopmental Disorders ◽  
Early Onset ◽  
Copy Number ◽  
Structural Changes ◽  
Developmental Disorder ◽  
Copy Number Variants ◽  
Clinical Genetics

SummaryCopy number variants (CNVs) are structural changes in chromosomes that result in deletions, duplications, inversions or translocations of large DNA segments. Eleven confirmed CNV loci have been identified as rare but important risk factors in schizophrenia. These CNVs are also associated with other neurodevelopmental disorders and medical/physical comorbidities. Although the penetrance of the CNVs for schizophrenia (the chance that CNV carriers will develop the disorder) is modest, the penetrance of CNVs for any early-onset developmental disorder (e.g. intellectual disability or autism) is much higher. Testing for CNVs is now affordable and being used in clinical genetics and neurodevelopmental disorders clinics. It is possible that testing will be expanded to psychiatric clinics. This article provides a clinically relevant overview of recent CNV findings in schizophrenia and related disorders.

scholarly journals Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

BMC Genomics ◽  
2009 ◽  
Vol 10 (1) ◽  
pp. 526 ◽  
Author(s):  
JM Friedman ◽  
Shelin Adam ◽  
Laura Arbour ◽  
Linlea Armstrong ◽  
Agnes Baross ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Copy Number ◽  
Copy Number Variants ◽  
Snp Array ◽  
Genomic Hybridization

scholarly journals Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability

2010 ◽  
Vol 87 (2) ◽  
pp. 173-188 ◽  
Author(s):  
Annabel C. Whibley ◽  
Vincent Plagnol ◽  
Patrick S. Tarpey ◽  
Fatima Abidi ◽  
Tod Fullston ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
X Chromosome ◽  
Copy Number ◽  
Copy Number Variants ◽  
Fine Scale ◽  
Chromosome Copy Number
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