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 journal › Article

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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

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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, R. A., Bailin, T., Nicholls, R. D., Lee, S-T., Park, S. K., Mascari, M. J., & Butler, M. G. (1997). Hypopigmentation in the parder-willi syndrome correlates with p gene deletion but not with haplotype of the hemizygous p allele. American Journal of Medical Genetics, 71(1), 57-62.
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.
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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.",
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Spritz, RA, Bailin, T, Nicholls, RD, Lee, S-T, Park, SK, Mascari, MJ & Butler, MG 1997, 'Hypopigmentation in the parder-willi syndrome correlates with p gene deletion but not with haplotype of the hemizygous p allele', American Journal of Medical Genetics, vol. 71, no. 1, pp. 57-62.

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 journal › Article

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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.

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Spritz RA, Bailin T, Nicholls RD, Lee S-T, Park SK, Mascari MJ et al. Hypopigmentation in the parder-willi syndrome correlates with p gene deletion but not with haplotype of the hemizygous p allele. American Journal of Medical Genetics. 1997 Dec 1;71(1):57-62.

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