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- Title
Investigating the correlation between genotype and phenotype in Prader-Willi syndrome: a study of 45 cases from Brazil.
- 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
- Abstract
Background: 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. Results: 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. Conclusions: 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.
- Subjects
BRAZIL; PRADER-Willi syndrome; GENOTYPES; SLEEP apnea syndromes; GENETIC counseling; PHENOTYPES; GENETIC correlations
- Publication
Orphanet Journal of Rare Diseases, 2024, Vol 19, Issue 1, p1
- ISSN
1750-1172
- Publication type
Article
- DOI
10.1186/s13023-024-03157-2