Prader-Willi Syndrome Research Today is a free monthly online journal that collates and summarizes the latest research about Prader-Willi Syndrome, including details on pws, symptoms, treatment, causes. | ||||||
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Uniparental disomy and human disease: An overview.Yamazawa K, Ogata T, Ferguson-Smith AC
Uniparental disomy (UPD) refers to the situation in which both homologues of a chromosomal region/segment have originated from only one parent. This can involve the entire chromosome or only a small segment. As a consequence of UPD, or uniparental duplication/deficiency of part of a chromosome, there are two types of developmental risk: aberrant dosage of genes regulated by genomic imprinting and homozygosity of a recessive mutation. UPD models generated by reciprocal and Robertsonian translocation heterozygote intercrosses have been a powerful tool to investigate genomic imprinting in mice, whereas novel UPD patients such as those with cystic fibrosis and Prader-Willi syndrome, triggered the clarification of recessive diseases and genomic imprinting disorders in human. Newly developed genomic technologies as well as conventional microsatellite marker methods have been contributing to the functional and mechanistic investigation of UPD, leading to not only the acquisition of clinically valuable information, but also the further clarification of diverse genetic processes and disease pathogenesis. (c) 2010 Wiley-Liss, Inc. Published 30 August 2010 in Am J Med Genet C Semin Med Genet, 154(3): 329-34. Articles on Prader-Willi Syndrome published 30 August 2010: Prader-Willi syndrome and Angelman syndrome. Am J Med Genet C Semin Med Genet, 154(3): 365-76. Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurogenetic disorders in which imprinted genes on the proximal long arm of chromosome 15 are affected. Although the SNORD116 gene cluster has become a prime candidate for PWS, it cannot be excluded that other paternally expressed genes in the chromosomal region 15q11q13 contribute to the full phenotype. AS is caused by a deficiency of the UBE3A gene, which in the brain is expressed from the maternal allele only. The most ... [Abstract] [Full-text] Russell-Silver syndrome. Am J Med Genet C Semin Med Genet, 154(3): 355-64. In comparison to Prader-Willi or Angelman syndrome, Russell-Silver syndrome (RSS) is a relatively "young" imprinting disorder. This congenital disease is characterized by intrauterine and postnatal growth retardation, relative macrocephaly, a typical triangular face, asymmetry, and further less constant characteristic features. Genetic and epigenetic disturbances can meanwhile be detected in approximately 50% of patients with typical RSS features. Up to 5% of patients carry a maternal ... [Abstract] [Full-text] Articles on Prader-Willi Syndrome published 23 August 2010: A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations. J Dev Behav Pediatr. OBJECTIVE:: Angelman syndrome (AS) is a neurodevelopmental disorder caused by a deletion on chromosome 15, uniparental disomy, imprinting defect, or UBE3A mutation. It is characterized by intellectual disability with minimal speech and certain behavioral characteristics. We used standardized measures to characterize the developmental profile and to analyze genotype-phenotype correlations in AS. METHOD:: The study population consisted of 92 children, between 5 months and 5 years of age, enrolled ... [Abstract] [Full-text] Epilepsy in Prader-Willi syndrome: Clinical characteristics and correlation to genotype. Epilepsy Behav. Prader-Willi syndrome (PWS) is a genomic imprinting disease secondary to the loss of a functional paternal copy of 15q11-q13. Unlike its related imprinting disorder, Angelman syndrome, PWS has not been regarded as a risk factor for epilepsy. A retrospective analysis of 92 patients with PWS identified 24 (26%) with seizures. Twenty-two of these (92%) were affected by focal epilepsy and only two (8%) had generalized epilepsy. The most common seizure type was staring spells (67%). Correlation to ... [Abstract] [Full-text] Articles on Prader-Willi Syndrome published 16 August 2010: Anesthesia for a 16-month-old patient with Prader-Willi syndrome. J Anesth. Prader-Willi syndrome (PWS) is a rare disorder of chromosome abnormalities in which the paternal genes in chromosome 15 are lacking. The clinical course is characterized by hypotonia, hyperphagia, and morbid obesity. Both general and regional anesthesia in these patients is difficult due to morbid obesity and hypotonia. We report our anesthetic management in a patient with PWS with a body mass index (BMI) of 29.43 kg/m(2) who underwent orchiopexy and hypospadias repair. The clinical course of ... [Abstract] [Full-text] Articles on Prader-Willi Syndrome published 12 August 2010: One Year of Growth Hormone Treatment in Adults with Prader-Willi Syndrome Improves Body Composition: Results from a Randomized, Placebo-Controlled Study. J Clin Endocrinol Metab. Context: Prader-Willi syndrome (PWS) is a multisymptomatic disease that shares many similarities with the GH deficiency syndrome, including altered body composition with more body fat than lean body mass. Objective: Our objective was to investigate the effect of GH on body composition in adults with PWS. Design and patients: Forty-six adults with PWS were randomized to GH or placebo treatment for 12 months in a double-blind trial. Main Outcome Measures: We evaluated change in regional body ... [Abstract] [Full-text] Articles on Prader-Willi Syndrome published 3 August 2010: Development of the eating behaviour in Prader-Willi Syndrome: advances in our understanding. Int J Obes (Lond). Prader-Willi Syndrome (PWS) is a genetically determined neurodevelopmental disorder associated with mild to moderate intellectual disability, growth and sex-hormone deficiencies and a propensity to overeat that leads to severe obesity. The PWS phenotype changes from an early disinterest in food to an increasing pre-occupation with eating and a failure of the normal satiety response to food intake. The prevention of severe obesity is primarily through strict control of access to food and it is ... [Abstract] [Full-text] Articles on Prader-Willi Syndrome published 29 July 2010: Small gray matter volume in orbitofrontal cortex in Prader-Willi syndrome: A voxel-based MRI study. Hum Brain Mapp. Prader-Willi syndrome (PWS) is a genetically determined neurodevelopmental disorder presenting with behavioral symptoms including hyperphagia, disinhibition, and compulsive behavior. The behavioral problems in individuals with PWS are strikingly similar to those in patients with frontal pathologies, particularly those affecting the orbitofrontal cortex (OFC). However, neuroanatomical abnormalities in the frontal lobe have not been established in PWS. The aim of this study was to look, using ... [Abstract] [Full-text] © 2005-2010 Prader-Willi Syndrome Research Today. All Rights Reserved. |
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