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
Department of Pediatrics, Mackay Memorial Hospital, Taipei, Taiwan.
Acta Paediatr. 2007 Jun;96(6):902-5. doi: 10.1111/j.1651-2227.2007.00284.x.
Several different genetic defects have been found to result in the characteristic phenotypic expression of Prader-Willi syndrome (PWS).
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).
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.
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.
已发现几种不同的基因缺陷会导致普拉德-威利综合征(PWS)的特征性表型表达。
我们对1980年1月至2006年7月在台湾五个医疗中心确诊的67例经分子学证实的PWS病例进行了回顾性分析。比较了缺失型患者和母源单亲二倍体(UPD)患者的临床表现。
缺失型占56例(84%),UPD型占10例(15%),可能存在印记中心缺失或印记缺陷型占1例(1%)。与UPD型相比,缺失型PWS更易出现性腺功能减退(p<0.001)、手足短小(p<0.001)和色素减退(p<0.002)。UPD组的母亲年龄(p = 0.015)和父亲年龄(p = 0.021)均较高。两组间的其他临床特征无显著差异。
与大多数UPD发生率较高的西方人群不同,台湾地区这项关于PWS的研究显示缺失型发生率较高。UPD和缺失型基因型之间可能存在细微的表型差异,但尚不清楚这些差异在临床上是否重要。