The Spectrum of the Prader-Willi-like Pheno- and Genotype
| العنوان: | The Spectrum of the Prader-Willi-like Pheno- and Genotype |
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| المؤلفون: | Anita C. S. Hokken-Koelega, Alicia F Juriaans, Gerthe F. Kerkhof |
| المساهمون: | Pediatrics |
| المصدر: | Endocrine Reviews, 43(1), 1-18. The Endocrine Society |
| بيانات النشر: | The Endocrine Society, 2022. |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Genotype, Endocrinology, Diabetes and Metabolism, Endocrinology, SDG 3 - Good Health and Well-being, Intellectual Disability, Intellectual disability, Gene duplication, Medicine, Humans, Child, business.industry, Chromosome, Proteins, nutritional and metabolic diseases, medicine.disease, Phenotype, Obesity, Hypotonia, Fragile X syndrome, Muscle Hypotonia, medicine.symptom, business, Prader-Willi Syndrome |
| الوصف: | Prader–Willi syndrome (PWS) is a rare genetic syndrome, caused by the loss of expression of the paternal chromosome 15q11-q13 region. Over the past years, many cases of patients with characteristics similar to PWS, but without a typical genetic aberration of the 15q11-q13 region, have been described. These patients are often labelled as Prader–Willi-like (PWL). PWL is an as-yet poorly defined syndrome, potentially affecting a significant number of children and adults. In the current clinical practice, patients labelled as PWL are mostly left without treatment options. Considering the similarities with PWS, children with PWL might benefit from the same care and treatment as children with PWS. This review gives more insight into the pheno- and genotype of PWL and includes 86 papers, containing 368 cases of patients with a PWL phenotype. We describe mutations and aberrations for consideration when suspicion of PWS remains after negative testing. The most common genetic diagnoses were Temple syndrome (formerly known as maternal uniparental disomy 14), Schaaf–Yang syndrome (truncating mutation in the MAGEL2 gene), 1p36 deletion, 2p deletion, 6q deletion, 6q duplication, 15q deletion, 15q duplication, 19p deletion, fragile X syndrome, and Xq duplication. We found that the most prevalent symptoms in the entire group were developmental delay/intellectual disability (76%), speech problems (64%), overweight/obesity (57%), hypotonia (56%), and psychobehavioral problems (53%). In addition, we propose a diagnostic approach to patients with a PWL phenotype for (pediatric) endocrinologists. PWL comprises a complex and diverse group of patients, which calls for multidisciplinary care with an individualized approach. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1945-7189 0163-769X |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0f151456c0130c44225d6dbec06cacb https://pure.eur.nl/en/publications/f6c14b8c-bd5d-41ae-af56-d7a8dd34b585 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....e0f151456c0130c44225d6dbec06cacb |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19457189 0163769X |
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