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KMID : 1100720220420010079
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Annals of Laboratory Medicine
2022 Volume.42 No. 1 p.79 ~ p.88
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Clinical Utility of Methylation-Specific Multiplex Ligation-Dependent Probe Amplification for the Diagnosis of Prader?Willi Syndrome and Angelman Syndrome
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Kim Bo-Ram
Park Yong-Sook
Cho Sung-Im
Kim Man-Jin
Chae Jong-Hee
Kim Ji-Yeon
Seong Moon-Woo
Park Sung-Sup
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Abstract
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Background: Prader?Willi syndrome (PWS) and Angelman syndrome (AS) are genomic imprinting disorders that are mainly caused by a deletion on 15q11-q13, the uniparental disomy of chromosome 15, or an imprinting defect. We evaluated the utility of methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) as a diagnostic tool and for demonstrating the relationship between molecular mechanisms and clinical presentation.
Methods: We performed MS-MLPA using DNA samples from 93 subjects (45 PWS, 24 AS, and 24 non-PWS/AS controls) who had previously undergone MS-PCR for the diagnosis of PWS/AS. We compared the results of both assays, and patients’ clinical phenotypes were reviewed retrospectively.
Results: MS-MLPA showed a 100% concordance rate with MS-PCR. Among the 45 PWS patients, 26 (57.8%) had a deletion of 15q11-q13, and the others (42.2%) had uniparental disomy 15 or an imprinting defect. Among the 24 AS patients, 16 (66.7%) had a deletion of 15q11-q13, 7 AS patients (29.2%) had uniparental disomy 15 or an imprinting defect, and one AS patient (4.2%) showed an imprinting center deletion.
Conclusions: MS-MLPA has clinical utility for the diagnosis of PWS/AS, and it is superior to MS-PCR in that it can identify the molecular mechanism underlying the disease.
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KEYWORD
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Prader-Willi syndrome, Angelman syndrome, Methylation-specific multiplex ligation-dependent probe amplification, Methylation-specific PCR, Diagnosis, Utility
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