Prader-Willi syndrome (PWS) is characterized by infantile hypotonia, weight gain, and overeating during childhood, as well as developmental delay and intellectual disability [47]. Schaaf-Yang syndrome (SYS) has
Schaaf-Yang syndrome (SYS) is a rare neurodevelopmental disorder whose clinical spectrum includes neurodevelopment delay, dysmorphic features, and gastrointestinal symptoms such as feeding difficulties, gastroesophageal reflux, and chronic constipation. Given the small number of patients diagnosed with this ...
Functional genomics Original research Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2 Laura Castilla-Vallmanya ,1,2,3 Mónica Centeno-Pla ,1,2,4 Mercedes Serrano ,2,3...
Introduction: Schaaf Yang Syndrome (SHFYNG) is a multisystemic disorder characterized by a group of signs and symptoms related to genetic, congenital, and multivariate clinical alterations. It was first described by Dr. Schaaf and Dr. Yaping, professors of Molecular and Human Genetics at the ...
The severity of clinical manifestations in those affected by Schaaf-Yang syndrome may be related to the accumulation of altered proteins in the cell nucleus. "In other words, the mutations that cause more severe symptoms also cause the truncated MAGEL2 protein to accumulate more in the nucleus. ...
Besides PWS and SYS, Angelman syndrome (AS, OMIM#105830) is another imprinting disorder that is caused by genetic variation in the same region of chromosome 15 (Figure 1). Ataxia, happy demeanor, and sleeplessness are some of the symptoms observed in individuals with AS [75,76]. In AS, ...