Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations.
Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations.
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DOI：
10.1371/journal.pone.0066048
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发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Gimelli G
中科院分区：
文献类型：
--
作者：
Tassano E;Buttgereit J;Bader M;Lerone M;Divizia MT;Bocciardi R;Napoli F;Pala G;Sloan-Béna F;Gimelli S;Gimelli G
协调的骨生长由许多机制控制，由于许多激素和局部调节剂的参与，这些机制仅被部分理解。C型利钠肽（CNP）是由位于染色体2q37.1上的NPPC基因编码的，是一种调节软骨生长板软骨内骨化并影响纵向骨生长的分子。两项独立研究描述了3例Marfan样表型患者，表现为涉及相同染色体区域2q37.1和NPPC过表达的从头平衡易位。我们报告两个部分重叠的间隙2q37缺失阵列CGH确定。这两名患者表现出相反的表型，其特点是身材矮小和骨骼过度生长，分别。身材矮小患者存在2q37缺失，导致NPPC基因的一个拷贝丢失和DIS3L2基因截短，CNP血浆浓度正常。在具有Marfan样表型的患者中鉴定的缺失中断了DIS3L2基因而不涉及NPPC基因。此外，在该患者中发现CNP血浆浓度显著升高。在这项研究中，NPPC作为两个相反的表型的病因的可能作用进行了讨论。
Coordinated bone growth is controlled by numerous mechanisms which are only partially understood because of the involvement of many hormones and local regulators. The C-type Natriuretic Peptide (CNP), encoded by NPPC gene located on chromosome 2q37.1, is a molecule that regulates endochondral ossification of the cartilaginous growth plate and influences longitudinal bone growth. Two independent studies have described three patients with a Marfan-like phenotype presenting a de novo balanced translocation involving the same chromosomal region 2q37.1 and overexpression of NPPC. We report on two partially overlapping interstitial 2q37 deletions identified by array CGH. The two patients showed opposite phenotypes characterized by short stature and skeletal overgrowth, respectively. The patient with short stature presented a 2q37 deletion causing the loss of one copy of the NPPC gene and the truncation of the DIS3L2 gene with normal CNP plasma concentration. The deletion identified in the patient with a Marfan-like phenotype interrupted the DIS3L2 gene without involving the NPPC gene. In addition, a strongly elevated CNP plasma concentration was found in this patient. A possible role of NPPC as causative of the two opposite phenotypes is discussed in this study.
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DOI：
10.1158/1078-0432.ccr-09-1065
发表时间：
2009-10-01
期刊：
Clinical cancer research : an official journal of the American Association for Cancer Research
影响因子：
--
作者：
Drake KM;Ruteshouser EC;Natrajan R;Harbor P;Wegert J;Gessler M;Pritchard-Jones K;Grundy P;Dome J;Huff V;Jones C;Aldred MA
通讯作者：
Aldred MA
DOI：
10.1073/pnas.96.13.7403
发表时间：
1999-06-22
影响因子：
11.1
作者：
Matsukawa, N;Grzesik, WJ;Smithies, O
通讯作者：
Smithies, O
影响因子：
3.9
作者：
Bocciardi, Renata;Giorda, Roberto;Gimellio, Giorgio
通讯作者：
Gimellio, Giorgio
影响因子：
5.8
作者：
Olney, RC;Bükülmez, H;Warman, ML
通讯作者：
Warman, ML
影响因子：
4.8
作者：
Yasoda, A;Ogawa, Y;Nakao, K
通讯作者：
Nakao, K