Special Issue "Genetics of Prader-Willi syndrome"

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (1 November 2019).

Special Issue Editors

Prof. Dr. Merlin G. Butler
E-Mail Website
Guest Editor
Department of Psychiatry and Behavioral Sciences, University of Kansas Medical Center, Kansas City, KS 66160, USA
Interests: Prader-Willi syndrome, fragile X syndrome, microdeletion syndromes, autism spectrum disorders, genetics of autism, obesity and intellectual disability, chromosomal microarray analysis, next generation sequencing, delineation of rare genetic disorders, genotype-phenotype relationships
Special Issues and Collections in MDPI journals
Prof. David E. Godler
E-Mail Website
Guest Editor
Murdoch Children’s Research Institute and Department of Paediatrics, University of Melbourne
Interests: Chromosome 15 imprinting disorders, fragile X syndrome, Newborn screening, diagnostic testing, FMR1, SNRPN, mosaicism, chromosomal abnormalities, epigenetics, intellectual disability, autism spectrum disorders, genotype-phenotype relationships

Special Issue Information

Dear Colleagues,

Prader–Willi syndrome (PWS) is a complex genomic imprinting disorder associated with a spectrum of medical, cognitive, behavioural, and psychiatric problems and is also the most common cause of life-threatening obesity that can be effectively treated with hormone therapy and restricted diet, if detected early. PWS is usually caused by the loss of the paternally inherited 15q11.2-q13 region and abnormal expression of genes within that region and beyond. While some genotype–phenotype correlations with delineation of clinical characteristics and natural history have emerged when comparing the three main molecular classes of PWS (maternal uniparental disomy (UPD) 15, imprinting centre defect, and deletion of paternal 15q11-q13), better awareness and informative biomarkers are still needed. These could facilitate early diagnosis, counseling, prognostic testing, as well as patient stratification for clinical trials, to improve outcomes for the affected children and their families.

This Special Issue will comprise reviews and original research articles focused on the recent advances of genetics/genomics, testing, and epigenetic processes along with clinical description, co-morbidities, and natural history of Prader–Willi syndrome (PWS). Current and future directions with focus on improved screening, diagnosis, and treatment will be addressed in this rare neurodevelopmental genetic imprinting disorder influenced by the PWS genetic subtypes.

Prof. Merlin G. Butler
Prof. David E. Godler
Guest Editors

Manuscript Submission Information

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Keywords

  • Genetics
  • Genomics
  • Genotype–phenotype relationships
  • Co-morbidities
  • Natural history
  • Epigenetics
  • Screening
  • Obesity
  • Hyperphagia
  • Genetic testing
  • Treatment
  • Behavioural issues
  • Intellectual functioning
  • Sleep
  • Registries

Published Papers (4 papers)

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Open AccessArticle
Early Diagnosis in Prader–Willi Syndrome Reduces Obesity and Associated Co-Morbidities
Genes 2019, 10(11), 898; https://doi.org/10.3390/genes10110898 - 06 Nov 2019
Abstract
Prader–Willi syndrome (PWS) is an imprinting genetic disorder characterized by lack of expression of genes on the paternal chromosome 15q11–q13 region. Growth hormone (GH) replacement positively influences stature and body composition in PWS. Our hypothesis was that early diagnosis delays onset of obesity [...] Read more.
Prader–Willi syndrome (PWS) is an imprinting genetic disorder characterized by lack of expression of genes on the paternal chromosome 15q11–q13 region. Growth hormone (GH) replacement positively influences stature and body composition in PWS. Our hypothesis was that early diagnosis delays onset of obesity in PWS. We studied 352 subjects with PWS, recruited from the NIH Rare Disease Clinical Research Network, to determine if age at diagnosis, ethnicity, gender, and PWS molecular class influenced the age they first become heavy, as determined by their primary care providers, and the age they first developed an increased appetite and began seeking food. The median ages that children with PWS became heavy were 10 years, 6 years and 4 years for age at diagnosis < 1 year, between 1 and 3 years, and greater than 3 years of age, respectively. The age of diagnosis and ethnicity were significant factors influencing when PWS children first became heavy (p < 0.01), however gender and the PWS molecular class had no influence. Early diagnosis delayed the onset of becoming heavy in individuals with PWS, permitting early GH and other treatment, thus reducing the risk of obesity-associated co-morbidities. Non-white individuals had an earlier onset of becoming heavy. Full article
(This article belongs to the Special Issue Genetics of Prader-Willi syndrome)
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Open AccessArticle
The Global Prader–Willi Syndrome Registry: Development, Launch, and Early Demographics
Genes 2019, 10(9), 713; https://doi.org/10.3390/genes10090713 - 14 Sep 2019
Abstract
Advances in technologies offer new opportunities to collect and integrate data from a broad range of sources to advance the understanding of rare diseases and support the development of new treatments. Prader–Willi syndrome (PWS) is a rare, complex neurodevelopmental disorder, which has a [...] Read more.
Advances in technologies offer new opportunities to collect and integrate data from a broad range of sources to advance the understanding of rare diseases and support the development of new treatments. Prader–Willi syndrome (PWS) is a rare, complex neurodevelopmental disorder, which has a variable and incompletely understood natural history. PWS is characterized by early failure to thrive, followed by the onset of excessive appetite (hyperphagia). Additional characteristics include multiple endocrine abnormalities, hypotonia, hypogonadism, sleep disturbances, a challenging neurobehavioral phenotype, and cognitive disability. The Foundation for Prader–Willi Research’s Global PWS Registry is one of more than twenty-five registries developed to date through the National Organization of Rare Disorders (NORD) IAMRARE Registry Program. The Registry consists of surveys covering general medical history, system-specific clinical complications, diet, medication and supplement use, as well as behavior, mental health, and social information. Information is primarily parent/caregiver entered. The platform is flexible and allows addition of new surveys, including updatable and longitudinal surveys. Launched in 2015, the PWS Registry has enrolled 1696 participants from 37 countries, with 23,550 surveys completed. This resource can improve the understanding of PWS natural history and support medical product development for PWS. Full article
(This article belongs to the Special Issue Genetics of Prader-Willi syndrome)
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Open AccessArticle
Venous Thromboembolism in Prader–Willi Syndrome: A Questionnaire Survey
Genes 2019, 10(7), 550; https://doi.org/10.3390/genes10070550 - 19 Jul 2019
Cited by 1
Abstract
Prader–Willi Syndrome Association (USA) monitors the ongoing health and welfare of individuals with Prader–Willi syndrome (PWS) through active communication with members by membership surveys and data registries. Thromboembolism and blood clots have emerged in clinical studies as significant risk factors for injury and [...] Read more.
Prader–Willi Syndrome Association (USA) monitors the ongoing health and welfare of individuals with Prader–Willi syndrome (PWS) through active communication with members by membership surveys and data registries. Thromboembolism and blood clots have emerged in clinical studies as significant risk factors for injury and death in PWS. A 66-item questionnaire was developed by a panel of PWS medical and scientific experts, with input from Prader–Willi Syndrome Association (USA) leadership, so as to probe their membership on the frequency, risk, and protective factors for venous thromboembolism, pulmonary embolism, and related findings. The characteristics of those with and without a reported history of blood clots and related health factors were tabulated and analyzed. Responses were obtained for 1067 individuals with PWS (554 females and 513 males), and 38 (23 females and 15 males) had a history of blood clots. The individuals with clots did not differ by gender, but were significantly older 32.8 ± 15 years vs 20.4 ± 13 years, and were more likely to have a reported history of obesity (76%), edema (59%), hypertension (24%), vasculitis (33%), and family history of blood clots (33%) than those without clots. Growth hormone treatment was more common in individuals without clots. The risk factors for thromboembolism in PWS overlap those commonly observed for the general population. Full article
(This article belongs to the Special Issue Genetics of Prader-Willi syndrome)
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Open AccessCase Report
Single-Case Study of Appetite Control in Prader-Willi Syndrome, Over 12-Years by the Indian Extract Caralluma fimbriata
Genes 2019, 10(6), 447; https://doi.org/10.3390/genes10060447 - 12 Jun 2019
Abstract
This paper reports on the successful management of hyperphagia (exaggerated hunger) in a 14yr-old female with Prader–Willi syndrome (PWS). This child was diagnosed with PWS, (maternal uniparental disomy) at 18 months due to developmental delay, hypertonia, weight gain and extreme eating behaviour. Treatment [...] Read more.
This paper reports on the successful management of hyperphagia (exaggerated hunger) in a 14yr-old female with Prader–Willi syndrome (PWS). This child was diagnosed with PWS, (maternal uniparental disomy) at 18 months due to developmental delay, hypertonia, weight gain and extreme eating behaviour. Treatment of a supplement for appetite suppression commenced at 2 years of age. This single-case records ingestion of an Indian cactus succulent Caralluma fimbriata extract (CFE) over 12 years, resulting in anecdotal satiety, free access to food and management of weight within normal range. CFE was administered in a drink daily and dose was slowly escalated by observation for appetite suppression. Rigorous testing determined blood count, vitamins, key minerals, HbA1c, IGF-1 and function of the liver and thyroid all within normal range. The report suggests a strategy for early intervention against hyperphagia and obesity in PWS. This case was the instigator of the successful Australian PWS/CFE pilot and though anecdotal, the adolescent continues to ingest CFE followed by paediatricians at the Royal Children’s Hospital Melbourne, Victoria, Australia. Future clinical trials are worth considering, to determine an appropriate dose for individuals with PWS. Full article
(This article belongs to the Special Issue Genetics of Prader-Willi syndrome)
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