Investigation of copy number variation in children with conotruncal heart defects.
BACKGROUND
Congenital heart defects (CHD) are the most prevalent group of structural abnormalities at birth and one of the main causes of infant morbidity and mortality. Studies have shown a contribution of the copy number variation in the genesis of cardiac malformations.


OBJECTIVE
Investigate gene copy number variation (CNV) in children with conotruncal heart defect.


METHODS
Multiplex ligation-dependent probe amplification (MLPA) was performed in 39 patients with conotruncal heart defect. Clinical and laboratory assessments were conducted in all patients. The parents of the probands who presented abnormal findings were also investigated.


RESULTS
Gene copy number variation was detected in 7/39 patients: 22q11.2 deletion, 22q11.2 duplication, 15q11.2 duplication, 20p12.2 duplication, 19p deletion, 15q and 8p23.2 duplication with 10p12.31 duplication. The clinical characteristics were consistent with those reported in the literature associated with the encountered microdeletion/microduplication. None of these changes was inherited from the parents.


CONCLUSIONS
Our results demonstrate that the technique of MLPA is useful in the investigation of microdeletions and microduplications in conotruncal congenital heart defects. Early diagnosis of the copy number variation in patients with congenital heart defect assists in the prevention of morbidity and decreased mortality in these patients.
Universidade Federal de Mato Grosso, Cuiabá, MT, Brazil.
Carla Marques Rondon
CM
Campos
Laboratório de Citogenômica - LIM 03, Departamento de Patologia, Universidade de São Paulo, São Paulo, SP, Brazil.
Evelin Aline
EA
Zanardo
Laboratório de Citogenômica - LIM 03, Departamento de Patologia, Universidade de São Paulo, São Paulo, SP, Brazil.
Roberta Lelis
RL
Dutra
Universidade de São Paulo, São Paulo, SP, Brazil.
Leslie Domenici
LD
Kulikowski
Universidade de São Paulo, São Paulo, SP, Brazil.
Chong Ae
CA
Kim
D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D058674:Chromosome Duplication / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D056915:DNA Copy Number Variations / Q000235:genetics*; D042241:Early Diagnosis; D005260:Female; D056726:Genetic Association Studies; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006345:Heart Septal Defects, Ventricular / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D060885:Multiplex Polymerase Chain Reaction; D011446:Prospective Studies