Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.
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DOI：
10.1002/ajmg.c.31753
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发表时间：
2019-12
期刊：
影响因子：
--
通讯作者：
van Haaften G
中科院分区：
文献类型：
--
作者：
Grange DK;Roessler HI;McClenaghan C;Duran K;Shields K;Remedi MS;Knoers NVAM;Lee JM;Kirk EP;Scurr I;Smithson SF;Singh GK;van Haelst MM;Nichols CG;van Haaften G
Cantú综合征（CS）于1982年首次被描述，由ABCC 9和KCNJ 8的致病性变体引起，ABCC 9和KCNJ 8分别编码ATP敏感性钾（KATP）通道的调节亚基和孔形成亚基。多个病例报告受影响的个人描述了CS的各种临床特征，但缺乏系统的研究。为了确定遗传变异对CS表型和临床结局的影响，我们开发了一个标准化的基于REDCap的CS注册表。我们报告了74名CS受试者的表型特征和相关基因型，其中72名受试者证实了ABCC9变异。所有个体都有增生和特征性的面部外观。胎儿期羊水过多、柔韧性过强、水肿、动脉导管未闭（PDA）、心脏肥大、主动脉根部扩张、脑动脉血管迂曲和偏头痛是常见的特征，尽管即使在这一大组受试者中，CS相关特征也不完全清楚，与基因型没有明确的相关性。
Cantú syndrome (CS), first described in 1982, is caused by pathogenic variants in ABCC9 and KCNJ8, which encode the regulatory and pore forming subunits of ATP-sensitive potassium (KATP) channels, respectively. Multiple case reports of affected individuals have described the various clinical features of CS, but systematic studies are lacking. To define the effects of genetic variants on CS phenotypes and clinical outcomes, we have developed a standardized REDCap-based registry for CS. We report phenotypic features and associated genotypes on 74 CS subjects, with confirmed ABCC9 variants in 72 of the individuals. Hypertrichosis and a characteristic facial appearance are present in all individuals. Polyhydramnios during fetal life, hyperflexibility, edema, patent ductus arteriosus (PDA), cardiomegaly, dilated aortic root, vascular tortuosity of cerebral arteries, and migraine headaches are common features, although even with this large group of subjects, there is incomplete penetrance of CS-associated features, without clear correlation to genotype.
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影响因子：
8
作者：
Huang, Yan;McClenaghan, Conor;Nichols, Colin G.
通讯作者：
Nichols, Colin G.
DOI：
10.1002/ajmg.c.31753
发表时间：
2019-12
期刊：
American journal of medical genetics. Part C, Seminars in medical genetics
影响因子：
--
作者：
Grange DK;Roessler HI;McClenaghan C;Duran K;Shields K;Remedi MS;Knoers NVAM;Lee JM;Kirk EP;Scurr I;Smithson SF;Singh GK;van Haelst MM;Nichols CG;van Haaften G
通讯作者：
van Haaften G
影响因子：
33.6
作者：
Flagg TP;Enkvetchakul D;Koster JC;Nichols CG
通讯作者：
Nichols CG
影响因子：
9.9
作者：
Guerrero, Christopher R. Leon;Pathak, Sheel;Vo, Katie D.
通讯作者：
Vo, Katie D.
影响因子：
2
作者：
Czeschik, Johanna Christina;Voigt, Claudia;Wieczorek, Dagmar
通讯作者：
Wieczorek, Dagmar