Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (FTO): fine mapping and FTO gene expression study.
Investigation of a patient with a partial trisomy 16q including the fat mass and obesity associated gene (FTO): fine mapping and FTO gene expression study.
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DOI：
10.1002/ajmg.a.33229
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发表时间：
2010-03
影响因子：
2
通讯作者：
Stratakis, Constantine A.
中科院分区：
文献类型：
--
作者：
van den Berg, Linda;Delemarre-van de Waa, Henriette;Han, Joan C.;Ylstra, Bauke;Eijk, Paul;Nesterova, Maria;Heutink, Peter;Stratakis, Constantine A.
先前描述了一位患有部分16q三体的女性患者。她的临床特征包括肥胖、重度乳房发育不全、中重度智力低下、注意缺陷多动障碍、畸形相和小关节收缩。在本文中，我们对该患者的遗传异常进行了更详细的分析。我们对脂肪量和肥胖相关基因（FTO）在她的复制中的作用特别感兴趣。FTO的单核苷酸多态性最近与肥胖有关。利用高分辨率的寡核苷酸阵列比较基因组杂交技术（CGH）精确定位了重复序列的断点。我们发现在16q11.2到16q13上的复制跨度为11.45 Mb，并且包含FTO。通过对患者基因组DNA的qPCR证实了FTO拷贝数的增加。我们利用qPCR技术研究了FTO拷贝数增加对患者永生化淋巴细胞中FTO基因表达的影响。患者淋巴细胞中未发现FTO表达增加的证据。我们讨论了这些发现和重叠16q重复患者的共同表型特征，以及一些临床表现的候选基因。
A female patient with a partial trisomy 16q was described previously. Her clinical characteristics included obesity, severe anisomastia, moderate to severe mental retardation, attention deficit hyperactivity disorder, dysmorphic facies, and contractions of the small joints. In this paper, we describe a more detailed analysis of the genetic anomaly in this patient. We were particularly interested in the involvement of the fat mass and obesity associated gene (FTO) in her duplication. Single nucleotide polymorphisms in FTO have recently been associated with obesity. The breakpoints of the duplication were precisely mapped using high resolution oligonucleotide array comparative genomic hybridization (CGH). We found that the duplication spans 11.45 Mb on 16q11.2 to 16q13 and it includes FTO. The increased copy number of FTO was confirmed with a qPCR on genomic DNA of the patient. We investigated the influence of the increased FTO copy number on FTO gene expression in immortalized lymphocytes from the patient using qPCR. No evidence of increased FTO expression was detected in the patient’s lymphocytes. We discuss these findings and shared phenotypic features of patients with overlapping 16q duplications, as well as candidate genes for some of the clinical manifestations.
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影响因子：
3.5
作者：
Nishimura, DY;Searby, CC;Sheffield, VC
通讯作者：
Sheffield, VC
影响因子：
10.6
作者：
Biederman, J;Spencer, T
通讯作者：
Spencer, T
影响因子：
56.9
作者：
Frayling, Timothy M.;Timpson, Nicholas J.;McCarthy, Mark I.
通讯作者：
McCarthy, Mark I.
影响因子：
5.3
作者：
HATANAKA, K;OZAKI, M;FUJITA, H
通讯作者：
FUJITA, H
DOI：
10.1002/ajmg.1320190312
发表时间：
1984-01-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
ROMAIN, DR;FRAZER, AG;CHAPMAN, CJ
通讯作者：
CHAPMAN, CJ