Genotype and phenotype in patients with Prader-Willi syndrome in Taiwan.
OBJECTIVE
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.


CONCLUSIONS
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.
Lin
Hsiang-Yu
HY
Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Lin
Shuan-Pei
SP
Chuang
Chih-Kuang
CK
Chen
Ming-Ren
MR
Yen
Jui-Lung
JL
Lee
Yann-Jinn
YJ
Huang
Chi-Yu
CY
Tsai
Li-Ping
LP
Niu
Dau-Ming
DM
Chao
Mei-Chyn
MC
Kuo
Pao-Lin
PL
D000293:Adolescent; D044466:Asian People; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000208:ethnology / Q000235:genetics*; D012189:Retrospective Studies; D013624:Taiwan; D024182:Uniparental Disomy / Q000235:genetics*; D044465:White People