Advances in Clinical and Experimental Medicine

Title abbreviation: Adv Clin Exp Med
JCR Impact Factor (IF) – 1.736
5-Year Impact Factor – 2.135
Index Copernicus  – 168.52
MEiN – 70 pts

ISSN 1899–5276 (print)
ISSN 2451-2680 (online)
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Advances in Clinical and Experimental Medicine

2020, vol. 29, nr 1, January, p. 101–106

doi: 10.17219/acem/112609

Publication type: original article

Language: English

License: Creative Commons Attribution 3.0 Unported (CC BY 3.0)

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Multiplex ligation-dependent probe amplification as a screening test in children with autism spectrum disorders

Izabela Łaczmańska1,A,B,C,D,E,F, Agnieszka Stembalska1,B,D,E,F, Magdalena Złocińska1,B,C, Joanna Kozłowska1,B,C, Paweł Skiba1,B,C, Karolina Pesz1,B,C,D,F, Ryszard Ślęzak1,B,C,E, Robert Śmigiel2,B,C,E, Aleksandra Jakubiak1,B,C, Błażej Misiak1,B,C,E, Maria M. Sąsiadek1,B,C,E,F

1 Department of Genetics, Wroclaw Medical University, Poland

2 Department of Pediatrics and Rare Disorders, Wroclaw Medical University, Poland

Abstract

Background. Autism spectrum disorders (ASDs) are a heterogeneous group of neurodevelopmental disorders, characterized by the presence of various symptoms related to deficits in communication and social interactions as well as stereotyped and repetitive behavior. Increasing evidence indicates the contribution of genetic factors in the etiology of ASDs. Genetic diagnosis in ASDs is based on identifying chromosome aberrations, microaberrations and point mutations in specific genes. One of the diagnostic tools is multiplex ligase-dependent probe amplification (MLPA) with a set of probes dedicated to ASDs (SALSA MLPA P343 Autism-1; MRC-Holland BV, Amsterdam, the Netherlands) targeting the genes located in the regions 15q11-q13, 16p11 and the SHANK3 gene in the 22q13 region.
Objectives. Our study included 240 patients referred to the clinical genetics unit because of ASDs and/or developmental delay and/or an intellectual disability. Before genetic testing, the patients underwent a comprehensive medical work-up.
Material and Methods. Multiplex ligase-dependent probe amplification was performed in 256 DNA samples from 240 probands and 16 family members using the SALSA MLPA P343 Autism-1 probe mix (MRC-Holland BV) according to the manufacturer’s protocol.
Results. We obtained 234 normal results and 22 abnormal results (15 probands and 7 abnormal results for probands’ parents or siblings). We diagnosed 1 16p11 microdeletion syndrome and 1 16p11 microduplication syndrome. We also found 3 deletions and 1 duplication in 15q13 region including 2 or 3 genes and 9 single probe alterations in the regions examined (1 duplication and 7 deletions).
Conclusion. Due to the low costs, MLPA test may be a good tool for the genetic screening of ASD patients.

Key words

diagnostics, autism, MLPA

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