Abstract Objective To detect subtelomeric copy number variations in children with genetic intellectual disability (ID) using multiplex ligation-dependent probe amplification (MLPA), and to investigate the pathogenesis of genetic ID. Methods A total of 68 children with ID who had normal results of G-banding karyotype analysis were included in the study. Their subtelomeric copy number variations were detected using MLPA P036. Results Among the 68 children with ID, 7(10%) showed subtelomeric copy number variations, and all the variations were deletion mutations. Among them, 1 case carried 2 subtelomeric microdeletions, and 1 case carried 4 subtelomeric microdeletions. Conclusions Subtelomeric copy number variations are important causes of genetic ID. MLPA can be used as an economic and effective method for investigating the pathogenesis of genetic ID.
ZHU Li-Na,WANG Yan,PENG Wei et al. Detection of subtelomeric copy number variations in children with intellectual disability[J]. CJCP, 2015, 17(12): 1273-1276.
ZHU Li-Na,WANG Yan,PENG Wei et al. Detection of subtelomeric copy number variations in children with intellectual disability[J]. CJCP, 2015, 17(12): 1273-1276.
Medina A, Pineros L, Arteaga C, et al. Multiplex ligationdependent probe amplification to subtelomeric rearrangements in idiopathic intellectual disability in Colombia[J]. Pediatr Neurol, 2014, 50(3):250-254.
[2]
Perou R, Bitsko RH, Blumberg SJ, et al. Mental health surveillance among children--United States, 2005-2011[J]. MMWR Surveill Summ, 2013, 62 Suppl 2:1-35.
[3]
Michelson DJ, Shevell MI, Sherr EH, et al. Evidence report:Genetic and metabolic testing on children with global developmental delay:report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society[J]. Neurology, 2011, 77(17):1629-1635.
Shevell M, Ashwal S, Donley D, et al. Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society[J]. Neurology, 2003, 60(3):367-380.
[6]
Mefford HC, Trask BJ. The complex structure and dynamic evolution of human subtelomeres[J]. Nat Rev Genet, 2002, 3(2): 91-102.
[7]
Wu Y, Ji T, Wang J, et al. Submicroscopic subtelomeric aberrations in Chinese patients with unexplained developmental delay/mental retardation[J]. BMC Med Genet, 2010, 11:72.
[8]
Jehee FS, Takamori JT, Medeiros PF, et al. Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries[J]. Eur J Med Genet, 2011, 54(4):e425-e432.
