Sustained endocrine profiles of a girl with WAGR syndrome.
Sustained endocrine profiles of a girl with WAGR syndrome.
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DOI：
10.1186/s12881-017-0477-5
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发表时间：
2017-10-23
影响因子：
--
通讯作者：
Ohga S
中科院分区：
文献类型：
--
作者：
Takada Y;Sakai Y;Matsushita Y;Ohkubo K;Koga Y;Akamine S;Torio M;Ishizaki Y;Sanefuji M;Torisu H;Shaw CA;Kagami M;Hara T;Ohga S
Wilms瘤、无虹膜、泌尿生殖系统异常和智力低下(WAGR)综合征是一种罕见的遗传性疾病，由染色体11p13上WT1和PAX6杂合缺失引起。已知在人类和动物模型中，BDNF的缺失与过度吞噬和肥胖有关；然而，WAGR综合征患者的神经内分泌和表观遗传学特征仍有待确定。我们报告一例具有典型WAGR综合征表型的5岁女童。她在没有肥胖迹象的情况下，在身体发育、运动和认知发育方面表现出严重的延迟。阵列比较基因组杂交(CGH)显示，她在11p14.3p12处携带14.4亿Mb缺失，包括WT1，PAX6和BDNF基因。她在5岁时经历了反复的低血糖发作。胰岛素耐量和激素负荷测试显示，下丘脑对低血糖和其他刺激的反应正常。使用基于焦化测序的系统对新制备的外周淋巴细胞DNA进行甲基化分析，显示在已知印迹控制区的甲基化模式正常。WAGR综合征儿童可能表现出严重的出生后发育迟缓，其机制尚不清楚。WAGR综合征的表观遗传因素和生长相关基因尚不清楚。本文的在线版本(10.1186/s12881-0170477-5)包含补充材料，可供授权用户使用。
Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13. Deletion of BDNF is known eto be associated with hyperphagia and obesity in both humans and animal models; however, neuroendocrine and epigenetic profiles of individuals with WAGR syndrome remain to be determined. We report a 5-year-old girl with the typical phenotype of WAGR syndrome. She showed profound delays in physical growth, motor and cognitive development without signs of obesity. Array comparative genome hybridization (CGH) revealed that she carried a 14.4 Mb deletion at 11p14.3p12, encompassing the WT1, PAX6 and BDNF genes. She experienced recurrent hypoglycemic episodes at 5 years of age. Insulin tolerance and hormonal loading tests showed normal hypothalamic responses to the hypoglycemic condition and other stimulations. Methylation analysis for freshly prepared DNA from peripheral lymphocytes using the pyro-sequencing-based system showed normal patterns of methylation at known imprinting control regions. Children with WAGR syndrome may manifest profound delay in postnatal growth through unknown mechanisms. Epigenetic factors and growth-associated genes in WAGR syndrome remain to be characterized. The online version of this article (10.1186/s12881-017-0477-5) contains supplementary material, which is available to authorized users.
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影响因子：
1.7
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25
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Yi, Tingfang;Weng, Jinsheng;Liu, Mingyao
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DOI：
10.1073/pnas.96.26.15239
发表时间：
1999-12-21
影响因子：
11.1
作者：
Lyons, WE;Mamounas, LA;Tessarollo, L
通讯作者：
Tessarollo, L