A novel CUL4B splice site variant in a young male exhibiting less pronounced features
A novel CUL4B splice site variant in a young male exhibiting less pronounced features
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DOI：
10.1038/s41439-019-0074-6
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发表时间：
2019-09-04
影响因子：
1.5
通讯作者：
Saitoh, Shinji
中科院分区：
文献类型：
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作者：
Nakamura, Yuji;Okuno, Yusuke;Saitoh, Shinji
携带CUL4B基因变异的患者表现出综合征性智能障碍(MIM#300354)。一名7岁男孩出现智力残疾、癫痫史、面部特征和身材矮小。全外显子组测序在CUL4B中检测到C.974+3A>；G变异，随后证实该变异破坏了mRNA的剪接。与以前报道的病例相比，当前患者表现出不那么明显的表型特征。因此，这份报告提供了CUL4B相关疾病的基因型-表型相关性的证据。
Patients with variants in CUL4B exhibit syndromic intellectual disability (MIM #300354). A seven-year-old boy presented with intellectual disability, a history of seizure, characteristic facial features, and short stature. Whole-exome sequencing detected a c.974+3A>G variant in CUL4B, which was subsequently confirmed to disrupt mRNA splicing. The current patient showed less pronounced phenotypic features compared with the previously reported cases. This report, therefore, provides evidence of genotype-phenotype correlations in CUL4B-related disorders.