ArticleAmerican journal of medical genetics1997
Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele.
Article in American journal of medical genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
30 citing papers in PubMed, 95 citations in OpenAlex.
- Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.International journal of cancer · 2009Trial
- Concordance of Whole-Genome Long-Read Sequencing with Standard Clinical Testing for Prader-Willi and Angelman Syndromes.The Journal of molecular diagnostics : JMD · 2025Article
- Case Report: Genetic analysis of oculocutaneous albinism type 2 caused by a new mutation in theFrontiers in pediatrics · 2025Article
- Identification of novel variations of oculocutaneous albinism type 2 with Prader-Willi syndrome/Angelman syndrome in two Chinese families.Frontiers in genetics · 2023Article
- Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives.Clinical ophthalmology (Auckland, N.Z.) · 2022Review
- Influence of molecular classes and growth hormone treatment on growth and dysmorphology in Prader-Willi syndrome: A multicenter study.Clinical genetics · 2021Article
- Article
- Early Detection and Management of Prader-Willi Syndrome in Egyptian Patients.Journal of pediatric genetics · 2019Article
- Preclinical Testing in Translational Animal Models of Prader-Willi Syndrome: Overview and Gap Analysis.Molecular therapy. Methods & clinical development · 2019Review
- Multimodal imaging in a patient with Prader-Willi syndrome.International journal of retina and vitreous · 2018Article
- Benefits and limitations of prenatal screening for Prader-Willi syndrome.Prenatal diagnosis · 2017Review
- Article
- DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.Human mutation · 2013Review
- Hypomelanoses in children.Journal of cutaneous and aesthetic surgery · 2013Review
- Genetic architecture of skin and eye color in an African-European admixed population.PLoS genetics · 2013Article
- Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes.European journal of human genetics : EJHG · 2012Article
- Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.Human genetics · 2008Article
- Albinism and developmental delay: the need to test for 15q11-q13 deletion.Pediatric neurology · 2007Article
- A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.American journal of human genetics · 2007Article
- Phenotypic consequences of genetic variation at hemizygous alleles: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency.Genetics in medicine : official journal of the American College of Medical Genetics · 2005Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
Abstract
The Prader-Willi syndrome (PWS) usually results from a paternal deletion of 15q11-q13 or maternal disomy for chromosome 15. Reduced pigmentation of skin, hair, and eyes is common in PWS and was suggested previously to be associated with the 15q11-q13 deletion. The P gene, located in this same region, is associated with OCA2, an autosomal recessive disorder that is the most frequent form of tyrosinase-positive oculocutaneous albinism. We studied 28 individuals with PWS and found that hemizygosity for the P gene was significantly correlated with the occurrence of hypopigmentation among PWS patients. However, we found little or no relationship between the occurrence of hypopigmentation and the polymorphism haplotype of the intact P allele. Thus, our results indicate that hypopigmentation is likely the result of deletion of the P gene in the context of PWS but do not support the linked hypothesis that hypopigmentation results from hemizygosity for variant P alleles with reduced function.
Indexed as
Identifiers
9215770PMC6067925W2065835791What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.