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Special Issue "Genetics of Prader-Willi syndrome"
Deadline for manuscript submissions: closed (1 November 2019).
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
Special Issue in International Journal of Molecular Sciences: The Identification of the Genetic Components of Autism Spectrum Disorders 2017
Special Issue in International Journal of Molecular Sciences: Identification and Characterization of Genetic Components in Autism Spectrum Disorders 2019
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
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
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All papers will be peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1800 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
- Genotype–phenotype relationships
- Natural history
- Genetic testing
- Behavioural issues
- Intellectual functioning