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J Pediatr Genet 2023; 12(04): 273-279
DOI: 10.1055/s-0041-1741008
Original Article

The Utilization of MS-MLPA as the First-Line Test for the Diagnosis of Prader–Willi Syndrome in Thai Patients

Chanita Prapasrat 
1   Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
,
Preyaporn Onsod
1   Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
,
Veerawat Korkiatsakul 
1   Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
,
Budsaba Rerkamnuaychoke
1   Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
,
Duangrurdee Wattanasirichaigoon
2   Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
,
Takol Chareonsirisuthigul 
1   Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
› Author Affiliations Funding None.
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Abstract

Prader–Willi syndrome (PWS) is a genetic disorder caused by the expression disruption of genes on the paternally inherited allele of chromosome 15q11.2-q13. Apart from clinical diagnostic criteria, PWS is confirmed by genetic testing. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) is one of the molecular techniques used to analyze this syndrome. This study aimed to evaluate the concordance of the test results of MS-MLPA with conventional techniques in the diagnosis of PWS in Thai patients. Forty leftover specimens from routine genetic testing (MS-PCR and FISH) were tested to obtain MS-MLPA results. By comparison, perfect concordance was shown between the result of MS-MLPA and those of conventional techniques. In conclusion, MS-MLPA is an accurate and cost-effective assay that can be used to confirm PWS diagnosis with explicit deletion of affected genes.

Keywords

PWS - MS-MLPA - Imprinting disorder

Authors' Contributions

C.P. designed the study, collected data, performed genetic testing, and wrote the manuscript; P.O., V.K., and B.R. supervised genetic testing and provided samples; D.W. was an attending physician, who supervised and provided samples and clinical data; and T.K. designed the study, supervised for data analysis, and revised the manuscript.


Supplementary Material



Publication History

Received: 04 August 2021

Accepted: 22 November 2021

Article published online:
07 January 2022

© 2022. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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