TY - JOUR
T1 - Sporadic male patients with intellectual disability
T2 - Contribution of X-chromosome copy number variants
AU - Isrie, M.
AU - Froyen, G.
AU - Devriendt, K.
AU - de Ravel, T.
AU - Fryns, J. P.
AU - Vermeesch, J. R.
AU - Van Esch, H.
PY - 2012/11/1
Y1 - 2012/11/1
N2 - Genome-wide array comparative genome hybridization has become the first in line diagnostic tool in the clinical work-up of patients presenting with intellectual disability. As a result, chromosome X-copy number variations are frequently being detected in routine diagnostics. We retrospectively reviewed genome wide array-CGH data in order to determine the frequency and nature of chromosome X-copy number variations (X-CNV) in a cohort of 2222 sporadic male patients with intellectual disability (ID) referred to us for diagnosis. In this cohort, 68 males were found to have at least one X-CNV (3.1%). However, correct interpretation of causality remains a challenging task, and is essential for proper counseling, especially when the CNV is inherited. On the basis of these data, earlier experience and literature data we designed and propose an algorithm that can be used to evaluate the clinical relevance of X-CNVs detected in sporadic male ID patients. Applied to our cohort, 19 male ID patients (0.85%) were found to carry a (likely) pathogenic X-CNV.
AB - Genome-wide array comparative genome hybridization has become the first in line diagnostic tool in the clinical work-up of patients presenting with intellectual disability. As a result, chromosome X-copy number variations are frequently being detected in routine diagnostics. We retrospectively reviewed genome wide array-CGH data in order to determine the frequency and nature of chromosome X-copy number variations (X-CNV) in a cohort of 2222 sporadic male patients with intellectual disability (ID) referred to us for diagnosis. In this cohort, 68 males were found to have at least one X-CNV (3.1%). However, correct interpretation of causality remains a challenging task, and is essential for proper counseling, especially when the CNV is inherited. On the basis of these data, earlier experience and literature data we designed and propose an algorithm that can be used to evaluate the clinical relevance of X-CNVs detected in sporadic male ID patients. Applied to our cohort, 19 male ID patients (0.85%) were found to carry a (likely) pathogenic X-CNV.
KW - Comparative genome hybridization
KW - Copy number variation
KW - HTR2C
KW - Intellectual disability
KW - X-chromosome
UR - http://www.scopus.com/inward/record.url?scp=84867143342&partnerID=8YFLogxK
U2 - https://doi.org/10.1016/j.ejmg.2012.05.005
DO - https://doi.org/10.1016/j.ejmg.2012.05.005
M3 - Article
C2 - 22659343
SN - 1769-7212
VL - 55
SP - 577
EP - 585
JO - European journal of medical genetics
JF - European journal of medical genetics
IS - 11
ER -