Birth seasonality in Prader-Willi syndrome resulting from chromosome 15 microdeletion.
Birth seasonality in Prader-Willi syndrome resulting from chromosome 15 microdeletion.
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15 号染色体微缺失导致的普瑞德威利综合征的出生季节性。
DOI：
10.1002/ajmg.a.35893
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发表时间：
2013
期刊：
影响因子：
2
通讯作者：
Fukami M*
中科院分区：
文献类型：
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作者：
Ayabe T;Matsubara K;Ogata T;Ayabe A;Murakami N;Nagai T;Fukami M*
在这里，我们报告了Prader-Willi综合征（PWS，OMIM# 176270）的出生季节性，这是一种与各种畸形、神经、内分泌和精神表现相关的遗传性疾病[Cassidy和Drivel，2009]。PWS是由位于染色体15 q11印迹区域的父系衍生基因表达缺失引起的。2-q13;分别在约70%和25%的PWS患者中发现了涉及父系来源的印迹区域和母系单亲二体性（UPD）15（UPD（15）mat）的微缺失[Cassidy和Drivel，2009]。在其余患者中，该病症是由罕见的异常引起的，例如PWS印记中心的表突变和微缺失[de Smith等人，2009年]。Butler等[1985]根据美国三个医学中心的数据，报告了PWS的出生季节性。他们发现，61名15号染色体缺失的PWS患者中有46%出生在秋季，只有7%出生在冬季，而63名15号染色体正常的患者中没有发现这种出生季节性[Butler et al.，1985年]。这些结果表明，15号染色体缺失的频率受环境条件的影响。然而，鉴于患者人数相对较少，需要进一步调查。在这里，我们研究了271名日本PWS患者的出生季节性; 187名患者（69%）有15 q11。2-q13微缺失（缺失组），84例（31%）患者有UPD（15）mat（UPD组）。缺失组的分子诊断是基于荧光原位杂交的结果，使用探针的SNRPN区域在15 q11。2，UPD组的诊断基于15号染色体上几个基因座的微卫星分析结果[Matsubara et al.，2011年]。所有患者均为1995年以后出生。在271名患者中，145名在生长科学基金会的PWS数据库中登记（http：//www. fgs。或. jp/），其余126例在独协医科大学越谷医院进行了鉴定。本研究由独协医科大学越谷医院和国立儿童健康与发育研究所的研究所审查委员会批准，并在获得父母的知情同意后进行。数据来自生长科学基金会，并得到该基金会的许可。患者的出生月份分为四个季节：春季（3月至5月），夏季（6月至8月），秋季（9月至11月）和冬季（12月至2月）。在缺失或UPD组中，四个季节中父亲年龄的中位数没有差异（数据未显示）。我们研究了缺失组和日本一般人群之间出生季节分布的差异（年度生命统计数据）。
Here, we report on birth seasonality in Prader-Willi syndrome (PWS, OMIM# 176270), a genetic disorder associated with various dysmorphic, neurological, endocrine, and psychiatric manifestations [Cassidy and Driscoll, 2009]. PWS is caused by the absence of expression of paternally derived genes located on the imprinted region at chromosome 15q11. 2-q13; microdeletions involving the paternally derived imprinted region and maternal uniparental disomy (UPD) 15 (UPD (15) mat) have been identified in approximately 70% and 25% of PWS patients, respectively [Cassidy and Driscoll, 2009]. In the remaining patients, the condition is caused by rare abnormalities such as epimutation and microdeletion of the PWS imprinting center [de Smith et al., 2009]. Butler et al.[1985] reported birth seasonality in PWS, based on data from three medical centers in the USA. They found that 46% of 61 PWS patients with chromosome 15 deletions were born in autumn and only 7% were born in winter, while such birth seasonality was not identified in 63 patients with a normal chromosome 15 [Butler et al., 1985]. These results suggested that the frequency of chromosome 15 deletion is affected by environmental conditions. However, given the relatively small number of patients, further investigation was required. Here, we studied birth seasonality in 271 Japanese PWS patients; 187 patients (69%) had 15q11. 2-q13 microdeletion (deletion group), and 84 patients (31%) had UPD (15) mat (UPD group). Molecular diagnosis for the deletion group was based on the findings of fluorescent in situ hybridization using a probe for the SNRPN region at 15q11. 2, and diagnosis for the UPD group was based on the results of microsatellite analysis for several loci on chromosome 15 [Matsubara et al., 2011]. All patients were born after 1995. Of the 271 patients, 145 were registered in the PWS database of the Foundation for Growth Science (http://www. fgs. or. jp/), and the remaining 126 were identified at Dokkyo Medical University Koshigaya Hospital. This study was approved by the Institute Review Board Committees at Dokkyo Medical University Koshigaya Hospital and the National Research Institute for Child Health and Development, and was performed after obtaining informed consent from the parents. Data from the Foundation for Growth Science were utilized with the permission of the foundation.The birth months of the patients were grouped into four seasons: spring (March–May), summer (June–August), autumn (September–November), and winter (December–February). There were no differences in the median values of the paternal ages among the four seasons in the deletion or UPD group (data not shown). We studied differences in the seasonal distribution of births between the deletion group and the Japanese general population (Annual Vital