Diagnostic Usefulness of MLPA Techniques for Recurrent Copy Number Variants Detection in Global Developmental Delay/Intellectual Disability

Abstract

Diana Miclea,1,2 Adriana Szucs,1,2 Andreea Mirea,1,2 Delia-Maria Stefan,1,2 Florina Nazarie,1,2 Simona Bucerzan,2,3 Cecilia Lazea,2,3 Alina Grama,2,3 Tudor Lucian Pop,2,3 Marius Farcas,4 Gabriela Zaharie,3,4 Melinda Matyas,3,4 Monica Mager Snr,2,3 Mihaela Vintan,2,3 Radu Popp,1 Camelia Alkhzouz2,3 1Department of Molecular Sciences, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania; 2Emergency Clinical Hospital for Children, Cluj-Napoca, Romania; 3Department of Mother and Child, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania; 4County Emergency Clinical Hospital, Cluj-Napoca, RomaniaCorrespondence: Diana MicleaDepartment of Molecular Sciences, “Iuliu Hatieganu” University of Medicine and Pharmacy, Pasteur Street, No. 6, Cluj-Napoca, 400349, RomaniaEmail [email protected]: Genetic testing has become a standardized practice in the diagnosis of patients with global developmental delay/intellectual disability (GDD/ID). The aim of this study is to observe the frequency of recurrent copy number variations (CNVs) in patients diagnosed with GDD/ID, using MLPA technique.Methods: A total of 501 paediatric patients with GDD/ID were analysed using SALSA MLPA probemix P245 Microdeletion Syndromes-1A, and the technical steps were performed according to the MRC Holland MLPA general protocol.Results: Twenty-five of 501 patients (5%) were diagnosed with a microdeletion/microduplication syndrome. Amongst them, 7 of 25 (30%) with clinical suggestion have a confirmed diagnosis, for the other cases the clinical features were not evocative for a specific syndrome.Conclusion: This study showed that in cases with a specific clinical diagnosis the MLPA technique could be a useful alternative, less expensive and more efficient to indicate as first intention of a targeted diagnostic test, as it is the case of Williams syndrome, Prader–Willi syndrome or DiGeorge syndrome.Keywords: MLPA, global developmental delay, intellectual disability, diagnostic

Keywords

• mlpa
• global developmental delay
• intellectual disability
• diagnostic