Genetics of Prader-Willi syndrome
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 dete...
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| Language: | English |
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MDPI - Multidisciplinary Digital Publishing Institute
2022
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| Online Access: | ONIX_20221117_9783036550268_9 |
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| description | 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 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. |
| format | Online |
| id | doab-20.500.12854ir-93752 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2022 |
| publishDateRange | 2022 |
| publishDateSort | 2022 |
| publisher | MDPI - Multidisciplinary Digital Publishing Institute |
| publisherStr | MDPI - Multidisciplinary Digital Publishing Institute |
| record_format | ojs |
| spelling | doab-20.500.12854ir-937522024-03-30T23:22:31Z Genetics of Prader-Willi syndrome Butler, Merlin G. Godler, David E. Prader-Willi syndrome appetite treatment Caralluma fimbriata extract single-case Prader–Willi syndrome thromboembolism risk factors vasculitis blood clots registry natural history age diagnosis obesity deletion uniparental disomy genetic syndrome mental illness psychosis major depressive illness obsessive-compulsive disorder autism eating disorder skin picking insurance health claims thrombosis pulmonary embolism deep venous thrombosis individuals with exogenous obesity confirmatory ICD-9 diagnostic codes Prader–Willi 15q11.2 SNORD116 atypical microdeletion food-related behavior childhood scoliosis kyphosis spinal deformities junctional kyphosis treatment options surgery bracing KATP channel activation hyperphagic obesity animal models weight BMI pediatric linear mixed models gut microbiota bacteria fungi diet hyperphagia cross-sectional games parents home exercise bone health Prader-Willi syndrome (PWS) PWS molecular classes PWS genetic subtype–phenotype correlations psychiatric behavioral phenotype growth hormone treatment pharmacogenetic testing cytochrome P450 enzymes drug interactions medication management n/a thema EDItEUR::M Medicine and Nursing 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 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. 2022-11-17T16:22:33Z 2022-11-17T16:22:33Z 2022 book ONIX_20221117_9783036550268_9 9783036550268 9783036550251 https://directory.doabooks.org/handle/20.500.12854/93752 eng image/jpeg Attribution 4.0 International https://mdpi.com/books/pdfview/book/6180 https://mdpi.com/books/pdfview/book/6180 MDPI - Multidisciplinary Digital Publishing Institute 10.3390/books978-3-0365-5026-8 10.3390/books978-3-0365-5026-8 46cabcaa-dd94-4bfe-87b4-55023c1b36d0 9783036550268 9783036550251 224 Basel open access |
| spellingShingle | Prader-Willi syndrome appetite treatment Caralluma fimbriata extract single-case Prader–Willi syndrome thromboembolism risk factors vasculitis blood clots registry natural history age diagnosis obesity deletion uniparental disomy genetic syndrome mental illness psychosis major depressive illness obsessive-compulsive disorder autism eating disorder skin picking insurance health claims thrombosis pulmonary embolism deep venous thrombosis individuals with exogenous obesity confirmatory ICD-9 diagnostic codes Prader–Willi 15q11.2 SNORD116 atypical microdeletion food-related behavior childhood scoliosis kyphosis spinal deformities junctional kyphosis treatment options surgery bracing KATP channel activation hyperphagic obesity animal models weight BMI pediatric linear mixed models gut microbiota bacteria fungi diet hyperphagia cross-sectional games parents home exercise bone health Prader-Willi syndrome (PWS) PWS molecular classes PWS genetic subtype–phenotype correlations psychiatric behavioral phenotype growth hormone treatment pharmacogenetic testing cytochrome P450 enzymes drug interactions medication management n/a thema EDItEUR::M Medicine and Nursing Genetics of Prader-Willi syndrome |
| title | Genetics of Prader-Willi syndrome |
| title_full | Genetics of Prader-Willi syndrome |
| title_fullStr | Genetics of Prader-Willi syndrome |
| title_full_unstemmed | Genetics of Prader-Willi syndrome |
| title_short | Genetics of Prader-Willi syndrome |
| title_sort | genetics of prader willi syndrome |
| topic | Prader-Willi syndrome appetite treatment Caralluma fimbriata extract single-case Prader–Willi syndrome thromboembolism risk factors vasculitis blood clots registry natural history age diagnosis obesity deletion uniparental disomy genetic syndrome mental illness psychosis major depressive illness obsessive-compulsive disorder autism eating disorder skin picking insurance health claims thrombosis pulmonary embolism deep venous thrombosis individuals with exogenous obesity confirmatory ICD-9 diagnostic codes Prader–Willi 15q11.2 SNORD116 atypical microdeletion food-related behavior childhood scoliosis kyphosis spinal deformities junctional kyphosis treatment options surgery bracing KATP channel activation hyperphagic obesity animal models weight BMI pediatric linear mixed models gut microbiota bacteria fungi diet hyperphagia cross-sectional games parents home exercise bone health Prader-Willi syndrome (PWS) PWS molecular classes PWS genetic subtype–phenotype correlations psychiatric behavioral phenotype growth hormone treatment pharmacogenetic testing cytochrome P450 enzymes drug interactions medication management n/a thema EDItEUR::M Medicine and Nursing |
| topic_facet | Prader-Willi syndrome appetite treatment Caralluma fimbriata extract single-case Prader–Willi syndrome thromboembolism risk factors vasculitis blood clots registry natural history age diagnosis obesity deletion uniparental disomy genetic syndrome mental illness psychosis major depressive illness obsessive-compulsive disorder autism eating disorder skin picking insurance health claims thrombosis pulmonary embolism deep venous thrombosis individuals with exogenous obesity confirmatory ICD-9 diagnostic codes Prader–Willi 15q11.2 SNORD116 atypical microdeletion food-related behavior childhood scoliosis kyphosis spinal deformities junctional kyphosis treatment options surgery bracing KATP channel activation hyperphagic obesity animal models weight BMI pediatric linear mixed models gut microbiota bacteria fungi diet hyperphagia cross-sectional games parents home exercise bone health Prader-Willi syndrome (PWS) PWS molecular classes PWS genetic subtype–phenotype correlations psychiatric behavioral phenotype growth hormone treatment pharmacogenetic testing cytochrome P450 enzymes drug interactions medication management n/a thema EDItEUR::M Medicine and Nursing |
| url | ONIX_20221117_9783036550268_9 |