Prader-Willi syndrome (PWS) is a complex, multisystem disorder. Its major clinical features include neonatal hypotonia, developmental delay, short stature, behavioral abnormalities, childhood-onset obesity, hypothalamic hypogonadism, and characteristic appearance. The genetic basis of PWS is also complex. It is caused by absence of expression of the paternally active genes in the PWS critical region on 15q11-q13. In approximately 70% of cases this is the result of deletion of this region from the paternal chromosome 15. In approximately 28%, it is attributable to maternal uniparental disomy (UPD; inheritance of 2 copies of a chromosome from the mother and no copies from the father, as opposed to the normal 1 copy from each parent) of chromosome 15, and in <2%, it is the result of a mutation, deletion, or other defect in the imprinting center. Clinical diagnostic criteria were established by consensus in 1993. Subsequently, definitive molecular genetic testing became available for laboratory diagnosis of PWS. However, identification of appropriate patients for testing remains a challenge for most practitioners because many features of the disorder are nonspecific and others can be subtle or evolve over time. For example, hypoton...Continue Reading
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15
Ghrelin level and weight loss after laparoscopic sleeve gastrectomy and gastric mini-bypass for Prader-Willi syndrome in Chinese.
Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype
Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome.
Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromes.
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.
Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development
EBNA3C can modulate the activities of the transcription factor Necdin in association with metastasis suppressor protein Nm23-H1.
CSF hypocretin-1 levels in narcolepsy, Kleine-Levin syndrome, and other hypersomnias and neurological conditions
Global deficits in development, function, and gene expression in the endocrine pancreas in a deletion mouse model of Prader-Willi syndrome
Clinical effects of treatment for hypogonadism in male adolescents with Prader-Labhart-Willi syndrome
Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome
Clinical implications of gait analysis in the rehabilitation of adult patients with "Prader-Willi" Syndrome: a cross-sectional comparative study ("Prader-Willi" Syndrome vs matched obese patients and healthy subjects)
Psychomotor development in infants with Prader-Willi syndrome and associations with sleep-related breathing disorders
Loss of magel2, a candidate gene for features of Prader-Willi syndrome, impairs reproductive function in mice.
Psychiatric illness and intellectual disability in the Prader-Willi syndrome with different molecular defects--a meta analysis
Highest accuracy of combined consensus clinical criteria and SNRPN gene molecular markers in diagnosis of Prader-Willi syndrome in Thai patients
A survey on Prader-Willi syndrome in the Italian population: prevalence of historical and clinical signs
Treatment of short stature and growth hormone deficiency in children with somatotropin (rDNA origin).
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities
Applying novel genome-wide linkage strategies to search for loci influencing type 2 diabetes and adult height in American Samoa.
Developmental screening and detection of developmental delays in infants and toddlers with fragile X syndrome
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