Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Hypopigmentation in the Prader-Willi syndrome.

G L Wiesner, C M Bendel, D P Olds

    American Journal of Human Genetics
    |May 1, 1987
    PubMed
    Summary
    This summary is machine-generated.

    Related Concept Videos

    You might also read

    Related Articles

    Articles linked to this work by shared authors, journal, and citation graph.

    Sort by
    Same author

    Clinical features predict responsiveness to imatinib in platelet-derived growth factor receptor-alpha-negative hypereosinophilic syndrome.

    Allergy·2016
    Same author

    Selective attention in cerebral palsied and normal children.

    Journal of abnormal child psychology·2013
    Same author

    The new 6-unit individualized curriculum for pediatric residents: the perspective of neonatology fellowship program directors.

    Journal of perinatology : official journal of the California Perinatal Association·2013
    Same author

    Blueberry muffin rash, hyperbilirubinemia, and hypoglycemia: a case of hemolytic disease of the fetus and newborn due to anti-Kp(a).

    Journal of perinatology : official journal of the California Perinatal Association·2011
    Same author

    Attitudes toward genetic research review: results from a survey of human genetics researchers.

    Public health genomics·2011
    Same author

    Management of medullary thyroid cancer.

    Minerva endocrinologica·2011
    Same journal

    Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.

    American journal of human genetics·2026
    Same journal

    Bi-allelic missense variants in human GPN2 result in Perrault syndrome.

    American journal of human genetics·2026
    Same journal

    Integrative analysis of gastric tissue transcriptomes and gastric cancer GWAS implicates candidate susceptibility genes.

    American journal of human genetics·2026
    Same journal

    A transparent and generalizable deep-learning framework for genomic ancestry prediction.

    American journal of human genetics·2026
    Same journal

    Data-driven RNA phenotyping captures genetically regulated dimensions of the transcriptome.

    American journal of human genetics·2026
    Same journal

    Linkage disequilibrium and allelic heterogeneity explain variation in coronary artery disease risk at 9p21 across populations and reduced effect in Africans.

    American journal of human genetics·2026
    See all related articles

    Hypopigmentation affects nearly half of individuals with Prader-Willi syndrome (PWS). This finding may be linked to a deletion on chromosome 15, though the exact cause remains unclear.

    Area of Science:

    • Genetics
    • Dermatology
    • Ophthalmology

    Background:

    • Prader-Willi syndrome (PWS) is a complex genetic disorder.
    • Pigmentation abnormalities are sometimes observed in individuals with PWS.

    Purpose of the Study:

    • To investigate the prevalence and characteristics of hypopigmentation in individuals with PWS.
    • To explore potential genetic correlations, specifically deletions on chromosome 15, associated with hypopigmentation in PWS.

    Main Methods:

    • Evaluated cutaneous and ocular pigmentation in 29 individuals diagnosed with PWS.
    • Defined hypopigmentation criteria including skin type, family history, and iris translucency.
    • Assessed hairbulb tyrosinase activity, glutathione content, and urine cysteinyldopa excretion.
    • Correlated pigmentation findings with genetic analysis, focusing on chromosome 15 deletions.

    Related Experiment Videos

    Main Results:

    • 48% of the PWS individuals studied met the criteria for hypopigmentation.
    • A deletion on the proximal long arm of chromosome 15 was found in hypopigmented individuals, but also in some non-hypopigmented individuals.
    • Biochemical markers (tyrosinase activity, glutathione, cysteinyldopa) were low in PWS individuals regardless of hypopigmentation status.

    Conclusions:

    • Hypopigmentation is a significant clinical feature in a substantial portion of individuals with Prader-Willi syndrome.
    • A deletion on chromosome 15 is potentially associated with hypopigmentation in PWS, but does not fully explain its occurrence.
    • The underlying mechanism causing hypopigmentation in PWS remains to be elucidated.