Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects.
Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects.
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植入前诊断畸形面部特征和智力发育障碍（CHDFIDD）的遗传，没有先天性心脏缺陷。
DOI：
10.1002/mgg3.1863
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发表时间：
2022-03
影响因子：
2
通讯作者：
Jing X
中科院分区：
文献类型：
--
作者：
Cui X;Wu X;Wang H;Zhang S;Wang W;Jing X
细胞周期蛋白依赖性激酶13在基因转录调控中起着关键作用。最近的证据表明，CDK 13的杂合子变异与智力缺陷和发育迟缓的综合征形式相关，其以常染色体显性方式遗传。我院一名患有CDK 13变异（c.2149（外显子4）G>A）的智障母亲（33岁）和儿子（10岁男孩）。p.Gly717Arg）通过全外显子组测序（WES）检测。检索截至2021年11月11日所有已发表的CDK 13变异综合征病例，记录并总结其临床信息。我们研究了一个中国家族中的两名患者，他们具有杂合的先天性CDK 13变异（c.2149（外显子4）G>A）。p.Gly717Arg），表现出典型的畸形面部特征和智力发育障碍（CHDFIDD，OMIM#617360）的特征，没有先天性心脏缺陷。这是第一例报告的CDK 13变异的成年患者生下了具有相同变异的下一代。先证者及其丈夫在完全知情同意的情况下进行了单基因疾病植入前基因检测（PGT-M），并成功阻止了疾病的遗传。本研究对CDHFIDD患者的分子诊断和遗传咨询具有重要意义，并扩展了CDK 13的变异谱。这是第一例报告的CDK 13变异的成年患者生下了具有相同变异的下一代。本研究对CDHFIDD患者的分子诊断和遗传咨询具有重要意义，并扩展了CDK 13的变异谱。
Cyclin‐dependent kinase 13 plays a critical role in the regulation of gene transcription. Recent evidence suggests that heterozygous variants in CDK13 are associated with a syndromic form of mental deficiency and developmental delay, which is inherited in an autosomal dominant manner. A mentally retarded mother (33‐year‐old) and son (10‐year‐old boy) in our hospital with CDK13 variant (c.2149 (exon 4) G>A. p.Gly717Arg) were detected by whole‐exome sequencing (WES). All published CDK13 variant syndrome cases as of November 11, 2021, were searched, and their clinical information was recorded and summarized. We studied two patients in a Chinese family with a heterozygous constitutional CDK13 variant (c.2149 (exon 4) G>A. p.Gly717Arg), exhibiting the classical characteristics of dysmorphic facial features and intellectual developmental disorder (CHDFIDD, OMIM # 617360), without congenital heart defects. This is the first reported case of an adult patient with a CDK13 variant that gave birth to the next generation with the same variant. Preimplantation genetic testing for monogenic disease (PGT‐M) was performed for the proband and her husband with full informed consent and successfully blocked the inheritance of the disease. Our study is of great significance for molecular diagnosis and genetic counseling of patients with CDHFIDD and extends the variant spectrum of CDK13. This is the first reported case of an adult patient with a CDK13 variant that gave birth to the next generation with the same variant. Our study is of great significance for molecular diagnosis and genetic counseling of patients with CDHFIDD and extends the variant spectrum of CDK13.
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影响因子：
50.3
作者：
Quereda, Victor;Bayle, Simon;Duckett, Derek R.
通讯作者：
Duckett, Derek R.
影响因子：
3.7
作者：
Even Y;Escande ML;Fayet C;Genevière AM
通讯作者：
Genevière AM
影响因子：
7.3
作者：
Liu, Yao;Hao, Mingfeng;Gray, Nathanael S.
通讯作者：
Gray, Nathanael S.
影响因子：
6.1
作者：
De Rycke, M.;Goossens, V.;Moutou, C.
通讯作者：
Moutou, C.
影响因子：
6.7
作者：
Treff, Nathan R.;Fedick, Anastasia;Scott, Richard T., Jr.
通讯作者：
Scott, Richard T., Jr.