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Open Access Highly Accessed Research article

Array-CGH analysis in Rwandan patients presenting development delay/intellectual disability with multiple congenital anomalies

Annette Uwineza12, Jean-Hubert Caberg2, Janvier Hitayezu1, Anne Cecile Hellin2, Mauricette Jamar2, Vinciane Dideberg2, Emmanuel K Rusingiza3, Vincent Bours2 and Leon Mutesa1*

Author Affiliations

1 Center for Medical Genetics, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda

2 Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Liege, Belgium

3 Department of Pediatric Cardiology, Kigali University Teaching Hospital, Kigali, Rwanda

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BMC Medical Genetics 2014, 15:79  doi:10.1186/1471-2350-15-79

Published: 12 July 2014

Abstract

Background

Array-CGH is considered as the first-tier investigation used to identify copy number variations. Right now, there is no available data about the genetic etiology of patients with development delay/intellectual disability and congenital malformation in East Africa.

Methods

Array comparative genomic hybridization was performed in 50 Rwandan patients with development delay/intellectual disability and multiple congenital abnormalities, using the Agilent’s 180 K microarray platform.

Results

Fourteen patients (28%) had a global development delay whereas 36 (72%) patients presented intellectual disability. All patients presented multiple congenital abnormalities. Clinically significant copy number variations were found in 13 patients (26%). Size of CNVs ranged from 0,9 Mb to 34 Mb. Six patients had CNVs associated with known syndromes, whereas 7 patients presented rare genomic imbalances.

Conclusion

This study showed that CNVs are present in African population and show the importance to implement genetic testing in East-African countries.

Keywords:
Developmental delay; Intellectual disability; Multiple congenital abnormalities; Array-CGH; Copy number variation; Rwandan patients