与 INTS11 相关的神经发育障碍：病例报告和文献综述。

IF 2.6 3区生物学 Q2 GENETICS & HEREDITY Journal of Human Genetics Pub Date : 2024-07-19 DOI:10.1038/s10038-024-01276-z

Lihua Jiang, Yilong Wang, Weiqin Zhang, Xin Zhang, Feng Gao, Zhefeng Yuan

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引用次数: 0

摘要

背景：INTS11是Integrator复合体的一个关键催化元件，可调节RNA聚合酶II的终止并调节基因表达。直到最近，INTS11 基因突变还与人类神经发育障碍有关，表现为全面发育和语言发育迟缓、全身肌张力低下和进行性脑萎缩：我们报告了一例两岁中国女童的病例，她患有全面发育迟缓、全身肌张力低下、难治性癫痫、颅面畸形和进行性脑萎缩。我们在 INTS11 基因第 2 外显子 c.588_589del (p. Trp197AspfsTer2) 和 c.457_459del (p. Glu153del) 中发现了新的变异：我们发现了 INTS11 基因的复合杂合突变，其临床特征与之前关于人类 INTS11 基因变异的两篇报道一致，但她的癫痫反复发作更为明显，且对大多数抗癫痫药物和生酮饮食具有难治性。

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INTS11-related neurodevelopmental disorder: a case report and literature review.

Background: INTS11 is a critical catalytic component of the Integrator complex that regulates RNA polymerase II termination and modulates gene expression. Until recently, INTS11 mutations were associated with human neurodevelopmental disorders, characterized by global developmental and language delays, generalized hypotonia, and progressive brain atrophy.

Case: We report the case of a 2-year-old Chinese girl who presented with global developmental delay, generalized hypotonia, refractory epilepsy, craniofacial dysmorphism, and progressive brain atrophy. Novel variants were identified in exon 2 of INTS11 gene c.588_589del (p. Trp197AspfsTer2) and c.457_459del (p. Glu153del).

Conclusion: We identified a compound heterozygous mutation in INTS11, a clinical feature consistent with two previous reports of the variants in human INTS11, but her recurrent seizures were more pronounced and refractory to most antiepileptic drugs and ketogenic diets.

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来源期刊

Journal of Human Genetics 生物-遗传学

CiteScore

7.20

自引率

0.00%

发文量

101

审稿时长

4-8 weeks

期刊介绍： The Journal of Human Genetics is an international journal publishing articles on human genetics, including medical genetics and human genome analysis. It covers all aspects of human genetics, including molecular genetics, clinical genetics, behavioral genetics, immunogenetics, pharmacogenomics, population genetics, functional genomics, epigenetics, genetic counseling and gene therapy. Articles on the following areas are especially welcome: genetic factors of monogenic and complex disorders, genome-wide association studies, genetic epidemiology, cancer genetics, personal genomics, genotype-phenotype relationships and genome diversity.