Genotype and phenotype in patients with Prader-Willi Syndrome in Taiwan

Hsiang Yu Lin, Shuan Pei Lin, Chih Kuang Chuang, Ming Ren Chen, Jui Lung Yen, Yann Jinn Lee, Chi Yu Huang, Li Ping Tsai, Dau Ming Niu, Mei Chyn Chao, Pao-Lin Kuo

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Aim: Several different genetic defects have been found to result in the characteristic phenotypic expression of Prader-Willi syndrome (PWS). Methods: We performed a retrospective analysis of 67 cases of molecularly confirmed PWS diagnosed from January 1980 through July 2006 in five medical centres in Taiwan. Clinical manifestations were compared between patients with deletion and those with maternal uniparental disomy (UPD). Results: Deletion was present in 56 (84%), UPD in 10 (15%), and a probable imprinting centre deletion or imprinting defect in 1 (1%). PWS with deletion was more likely than that with UPD to be characterized by hypogonadism (p < 0.001), small hands and feet (p < 0.001), and hypopigmentation (p < 0.002). Both maternal (p = 0.015) and paternal age (p = 0.021) were higher in the UPD group. No other clinical features differed significantly different between the two groups. Conclusion: In contrast to most Western populations with a higher incidence of UPD, this study of PWS in Taiwan shows a higher incidence of deletion. There may be subtle phenotypic differences between the UPD and deletion genotypes, but its not clear that these are important clinically.

Original languageEnglish
Pages (from-to)902-905
Number of pages4
JournalActa Paediatrica, International Journal of Paediatrics
Volume96
Issue number6
DOIs
Publication statusPublished - 2007 Jun 1

Fingerprint

Uniparental Disomy
Prader-Willi Syndrome
Taiwan
Genotype
Phenotype
Paternal Age
Mothers
Hypopigmentation
Hypogonadism
Incidence
Foot
Hand
Population

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Cite this

Lin, Hsiang Yu ; Lin, Shuan Pei ; Chuang, Chih Kuang ; Chen, Ming Ren ; Yen, Jui Lung ; Lee, Yann Jinn ; Huang, Chi Yu ; Tsai, Li Ping ; Niu, Dau Ming ; Chao, Mei Chyn ; Kuo, Pao-Lin. / Genotype and phenotype in patients with Prader-Willi Syndrome in Taiwan. In: Acta Paediatrica, International Journal of Paediatrics. 2007 ; Vol. 96, No. 6. pp. 902-905.
@article{cad26212b07f467db2bd9372b88cd8b3,
title = "Genotype and phenotype in patients with Prader-Willi Syndrome in Taiwan",
abstract = "Aim: Several different genetic defects have been found to result in the characteristic phenotypic expression of Prader-Willi syndrome (PWS). Methods: We performed a retrospective analysis of 67 cases of molecularly confirmed PWS diagnosed from January 1980 through July 2006 in five medical centres in Taiwan. Clinical manifestations were compared between patients with deletion and those with maternal uniparental disomy (UPD). Results: Deletion was present in 56 (84{\%}), UPD in 10 (15{\%}), and a probable imprinting centre deletion or imprinting defect in 1 (1{\%}). PWS with deletion was more likely than that with UPD to be characterized by hypogonadism (p < 0.001), small hands and feet (p < 0.001), and hypopigmentation (p < 0.002). Both maternal (p = 0.015) and paternal age (p = 0.021) were higher in the UPD group. No other clinical features differed significantly different between the two groups. Conclusion: In contrast to most Western populations with a higher incidence of UPD, this study of PWS in Taiwan shows a higher incidence of deletion. There may be subtle phenotypic differences between the UPD and deletion genotypes, but its not clear that these are important clinically.",
author = "Lin, {Hsiang Yu} and Lin, {Shuan Pei} and Chuang, {Chih Kuang} and Chen, {Ming Ren} and Yen, {Jui Lung} and Lee, {Yann Jinn} and Huang, {Chi Yu} and Tsai, {Li Ping} and Niu, {Dau Ming} and Chao, {Mei Chyn} and Pao-Lin Kuo",
year = "2007",
month = "6",
day = "1",
doi = "10.1111/j.1651-2227.2007.00284.x",
language = "English",
volume = "96",
pages = "902--905",
journal = "Acta Paediatrica, International Journal of Paediatrics",
issn = "0803-5253",
publisher = "Wiley-Blackwell",
number = "6",

}

Lin, HY, Lin, SP, Chuang, CK, Chen, MR, Yen, JL, Lee, YJ, Huang, CY, Tsai, LP, Niu, DM, Chao, MC & Kuo, P-L 2007, 'Genotype and phenotype in patients with Prader-Willi Syndrome in Taiwan', Acta Paediatrica, International Journal of Paediatrics, vol. 96, no. 6, pp. 902-905. https://doi.org/10.1111/j.1651-2227.2007.00284.x

Genotype and phenotype in patients with Prader-Willi Syndrome in Taiwan. / Lin, Hsiang Yu; Lin, Shuan Pei; Chuang, Chih Kuang; Chen, Ming Ren; Yen, Jui Lung; Lee, Yann Jinn; Huang, Chi Yu; Tsai, Li Ping; Niu, Dau Ming; Chao, Mei Chyn; Kuo, Pao-Lin.

In: Acta Paediatrica, International Journal of Paediatrics, Vol. 96, No. 6, 01.06.2007, p. 902-905.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Genotype and phenotype in patients with Prader-Willi Syndrome in Taiwan

AU - Lin, Hsiang Yu

AU - Lin, Shuan Pei

AU - Chuang, Chih Kuang

AU - Chen, Ming Ren

AU - Yen, Jui Lung

AU - Lee, Yann Jinn

AU - Huang, Chi Yu

AU - Tsai, Li Ping

AU - Niu, Dau Ming

AU - Chao, Mei Chyn

AU - Kuo, Pao-Lin

PY - 2007/6/1

Y1 - 2007/6/1

N2 - Aim: Several different genetic defects have been found to result in the characteristic phenotypic expression of Prader-Willi syndrome (PWS). Methods: We performed a retrospective analysis of 67 cases of molecularly confirmed PWS diagnosed from January 1980 through July 2006 in five medical centres in Taiwan. Clinical manifestations were compared between patients with deletion and those with maternal uniparental disomy (UPD). Results: Deletion was present in 56 (84%), UPD in 10 (15%), and a probable imprinting centre deletion or imprinting defect in 1 (1%). PWS with deletion was more likely than that with UPD to be characterized by hypogonadism (p < 0.001), small hands and feet (p < 0.001), and hypopigmentation (p < 0.002). Both maternal (p = 0.015) and paternal age (p = 0.021) were higher in the UPD group. No other clinical features differed significantly different between the two groups. Conclusion: In contrast to most Western populations with a higher incidence of UPD, this study of PWS in Taiwan shows a higher incidence of deletion. There may be subtle phenotypic differences between the UPD and deletion genotypes, but its not clear that these are important clinically.

AB - Aim: Several different genetic defects have been found to result in the characteristic phenotypic expression of Prader-Willi syndrome (PWS). Methods: We performed a retrospective analysis of 67 cases of molecularly confirmed PWS diagnosed from January 1980 through July 2006 in five medical centres in Taiwan. Clinical manifestations were compared between patients with deletion and those with maternal uniparental disomy (UPD). Results: Deletion was present in 56 (84%), UPD in 10 (15%), and a probable imprinting centre deletion or imprinting defect in 1 (1%). PWS with deletion was more likely than that with UPD to be characterized by hypogonadism (p < 0.001), small hands and feet (p < 0.001), and hypopigmentation (p < 0.002). Both maternal (p = 0.015) and paternal age (p = 0.021) were higher in the UPD group. No other clinical features differed significantly different between the two groups. Conclusion: In contrast to most Western populations with a higher incidence of UPD, this study of PWS in Taiwan shows a higher incidence of deletion. There may be subtle phenotypic differences between the UPD and deletion genotypes, but its not clear that these are important clinically.

UR - http://www.scopus.com/inward/record.url?scp=34249779261&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=34249779261&partnerID=8YFLogxK

U2 - 10.1111/j.1651-2227.2007.00284.x

DO - 10.1111/j.1651-2227.2007.00284.x

M3 - Article

C2 - 17537021

AN - SCOPUS:34249779261

VL - 96

SP - 902

EP - 905

JO - Acta Paediatrica, International Journal of Paediatrics

JF - Acta Paediatrica, International Journal of Paediatrics

SN - 0803-5253

IS - 6

ER -