A Novel Mutation of <i>MAGEL2</i> in a Patient with Schaaf-Yang Syndrome and Hypopituitarism
| Author | Antonio D. Hidalgo-Santos | en |
| Author | Maria del Carmen DeMingo-Alemany | en |
| Author | Francisca Moreno-Macián | en |
| Author | Mónica Roselló | en |
| Author | Carmen Orellana | en |
| Author | Francisco Martínez | en |
| Author | Alfonso Caro-Llopis | en |
| Author | Sara León-Cariñena | en |
| Author | Miguel Tomás-Vila | en |
| Issued Date | 2018-07-31 | en |
| Abstract | Introduction: Schaaf-Yang syndrome (SYS) is caused by truncating point mutations of the paternal allele of MAGEL2, an imprinted gene located in the critical region of Prader-Willi syndrome (PWS). These patients present a phenotype with neurodevelopmental delay, hypotonia, joint contractures, and a particularly high prevalence of autism (up to 75% in affected individuals). The loss of function of MAGEL2 is suggested to contribute to endocrine hypothalamic dysfunction in individuals with PWS. Case Presentation: The current study presented the case of a patient with SYS and a novel de novo truncating mutation of MAGEL2 and phenotypic characteristics typical of this Prader-Willi-like syndrome and also including partial hypopituitarism, hypothyroidism, growth hormone deficiency, and hyperprolactinemia. Conclusions: The clinical and molecular similarities between SYS and PWS suggested the need for a thorough endocrinological follow-up to improve the prognosis and long-term quality of life for patients with SYS. | en |
| DOI | https://doi.org/10.5812/ijem.67329 | en |
| Keyword | Schaaf-Yang Syndrome | en |
| Keyword | Growth Hormone | en |
| Keyword | Hypothyroidism | en |
| Publisher | Brieflands | en |
| Title | A Novel Mutation of <i>MAGEL2</i> in a Patient with Schaaf-Yang Syndrome and Hypopituitarism | en |
| Type | Case Report | en |
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