Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil

Prader-Willi syndrome (PWS) is a genetic disorder characterized by abnormalities in the 15q11-q13 region. Understanding the correlation between genotype and phenotype in PWS is crucial for improved genetic counseling and prognosis. In this study, we aimed to investigate the correlation between genot...

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Bibliographic Details
Published in:Orphanet journal of rare diseases 2024-06, Vol.19 (1), p.240-12, Article 240
Main Authors: Cintra, Hiago Azevedo, Rocha, Danielle Nascimento, da Costa, Ana Carolina Carioca, Tyszler, Latife Salomão, Freitas, Silvia, de Araujo, Leonardo Abreu, Crozoe, Lisanne Incoutto, de Paula, Luísa Ribeiro, Correia, Patricia Santana, Gomes, Leonardo Henrique Ferreira, da Cunha Guida, Letícia
Format: Article
Language:English
Subjects:
Adolescent
Adult
Brazil
Child
Child, Preschool
Chromosomes, Human, Pair 15 - genetics
Clinical manifestations
Diagnosis
Epigenetics
Female
Genotype
Humans
Imprinting
Infant
Male
Medical research
Medicine, Experimental
Methylation-specific multiplex ligation-dependent probe amplification
Phenotype
Prader-Willi syndrome
Prader-Willi Syndrome - genetics
Uniparental Disomy - genetics
Young Adult
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Summary:Prader-Willi syndrome (PWS) is a genetic disorder characterized by abnormalities in the 15q11-q13 region. Understanding the correlation between genotype and phenotype in PWS is crucial for improved genetic counseling and prognosis. In this study, we aimed to investigate the correlation between genotype and phenotype in 45 PWS patients who previously underwent methylation-sensitive high-resolution melting (MS-HRM) for diagnosis. We employed methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and Sanger sequencing, along with collecting phenotypic data from the patients for comparison. Among the 45 patients, 29 (64%) exhibited a deletion of 15q11-q13, while the remaining 16 (36%) had uniparental disomy. No statistically significant differences were found in the main signs and symptoms of PWS. However, three clinical features showed significant differences between the groups. Deletion patients had a higher prevalence of myopia than those with uniparental disomy, as well as obstructive sleep apnea and an unusual skill with puzzles. The diagnostic tests (MS-HRM, MS-MLPA, and Sanger sequencing) yielded positive results, supporting their applicability in PWS diagnosis. The study's findings indicate a general similarity in the genotype-phenotype correlation across genetic subtypes of PWS.
ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-024-03157-2