Hypopigmentation in the parder-willi syndrome correlates with p gene deletion but not with haplotype of the hemizygous p allele

Richard A. Spritz, Tu Bailin, Robert D. Nicholls, Seung-Taek Lee, Sang Kyw Park, Maria J. Mascari, Merlin G. Butler

Research output: Contribution to journalArticle

63 Citations (Scopus)

Abstract

The Prader-Willi syndrome (PWS) usually results from a paternal deletion of 15qllqlS 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 ISq11-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.

Original languageEnglish
Pages (from-to)57-62
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume71
Issue number1
Publication statusPublished - 1997 Dec 1

Fingerprint

Hypopigmentation
Prader-Willi Syndrome
Gene Deletion
Haplotypes
Alleles
Skin Pigmentation
Chromosomes, Human, Pair 15
Hair
Genes
Mothers

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)

Cite this

Spritz, Richard A. ; Bailin, Tu ; Nicholls, Robert D. ; Lee, Seung-Taek ; Park, Sang Kyw ; Mascari, Maria J. ; Butler, Merlin G. / Hypopigmentation in the parder-willi syndrome correlates with p gene deletion but not with haplotype of the hemizygous p allele. In: American Journal of Medical Genetics. 1997 ; Vol. 71, No. 1. pp. 57-62.
@article{266f4c54fb214cab933b2a71585a9b9a,
title = "Hypopigmentation in the parder-willi syndrome correlates with p gene deletion but not with haplotype of the hemizygous p allele",
abstract = "The Prader-Willi syndrome (PWS) usually results from a paternal deletion of 15qllqlS 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 ISq11-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.",
author = "Spritz, {Richard A.} and Tu Bailin and Nicholls, {Robert D.} and Seung-Taek Lee and Park, {Sang Kyw} and Mascari, {Maria J.} and Butler, {Merlin G.}",
year = "1997",
month = "12",
day = "1",
language = "English",
volume = "71",
pages = "57--62",
journal = "American Journal of Medical Genetics, Part A",
issn = "0148-7299",
publisher = "Wiley-Liss Inc.",
number = "1",

}

Hypopigmentation in the parder-willi syndrome correlates with p gene deletion but not with haplotype of the hemizygous p allele. / Spritz, Richard A.; Bailin, Tu; Nicholls, Robert D.; Lee, Seung-Taek; Park, Sang Kyw; Mascari, Maria J.; Butler, Merlin G.

In: American Journal of Medical Genetics, Vol. 71, No. 1, 01.12.1997, p. 57-62.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Hypopigmentation in the parder-willi syndrome correlates with p gene deletion but not with haplotype of the hemizygous p allele

AU - Spritz, Richard A.

AU - Bailin, Tu

AU - Nicholls, Robert D.

AU - Lee, Seung-Taek

AU - Park, Sang Kyw

AU - Mascari, Maria J.

AU - Butler, Merlin G.

PY - 1997/12/1

Y1 - 1997/12/1

N2 - The Prader-Willi syndrome (PWS) usually results from a paternal deletion of 15qllqlS 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 ISq11-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.

AB - The Prader-Willi syndrome (PWS) usually results from a paternal deletion of 15qllqlS 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 ISq11-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.

UR - http://www.scopus.com/inward/record.url?scp=0030922598&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0030922598&partnerID=8YFLogxK

M3 - Article

VL - 71

SP - 57

EP - 62

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 0148-7299

IS - 1

ER -