Genotype and phenotype in patients with Prader–Willi Syndrome in Taiwan
Version of Record online: 24 MAY 2007
©2007 The Author(s)/Journal Compilation © 2007 Foundation Acta Pædiatrica/Acta Pædiatrica
Volume 96, Issue 6, pages 902–905, June 2007
How to Cite
Lin, H.-Y., Lin, S.-P., Chuang, C.-K., Chen, M.-R., Yen, J.-L., Lee, Y.-J., Huang, C.-Y., Tsai, L.-P., Niu, D.-M., Chao, M.-C. and Kuo, P.-L. (2007), Genotype and phenotype in patients with Prader–Willi Syndrome in Taiwan. Acta Paediatrica, 96: 902–905. doi: 10.1111/j.1651-2227.2007.00284.x
- Issue online: 24 MAY 2007
- Version of Record online: 24 MAY 2007
- Received 14 October 2006; revised 22 January 2007; accepted 19 February 2007.
- Prader–Willi syndrome;
- Uniparental disomy
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.