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患有与神经发育障碍相关基因罕见结构变异的心脏颜面皮肤综合征。

Cardiofaciocutaneous syndrome with rare structural variant in gene associated with neurodevelopmental disorders.

作者信息

Dell'Edera Domenico, Debellis Lucantonio, Mitidieri Angela, Anna Epifania Annunziata, Cuscianna Eustachio, Allegretti Arianna

机构信息

Unit of Cytogenetic and Molecular Genetics "Madonna delle Grazie" Hospital Matera Italy.

出版信息

Clin Case Rep. 2020 Feb 14;8(3):539-544. doi: 10.1002/ccr3.2729. eCollection 2020 Mar.

DOI:10.1002/ccr3.2729
PMID:32185055
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7069886/
Abstract

We describe a girl with clinical signs of cardiofaciocutaneous syndrome who simultaneously presents a mutation in the BRAF gene and a 9p24.3 microduplication. This genetic condition has never been described in the literature and could explain the phenotypic variability observed in the girl.

摘要

我们描述了一名患有心脏颜面皮肤综合征临床体征的女孩，她同时存在BRAF基因的突变和9p24.3微重复。这种基因状况在文献中从未被描述过，并且可以解释在该女孩身上观察到的表型变异性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9e6b/7069886/95992f7b3362/CCR3-8-539-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9e6b/7069886/24c163faaa83/CCR3-8-539-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9e6b/7069886/49795c5f5996/CCR3-8-539-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9e6b/7069886/95992f7b3362/CCR3-8-539-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9e6b/7069886/24c163faaa83/CCR3-8-539-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9e6b/7069886/49795c5f5996/CCR3-8-539-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9e6b/7069886/95992f7b3362/CCR3-8-539-g003.jpg

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本文引用的文献

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An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome.BRAF相关心脏-面部-皮肤综合征中伴有弥散受限的急性脑病。
Brain Dev. 2019 Apr;41(4):378-381. doi: 10.1016/j.braindev.2018.10.012. Epub 2018 Nov 7.
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Copy number variation meta-analysis reveals a novel duplication at 9p24 associated with multiple neurodevelopmental disorders.
拷贝数变异荟萃分析揭示了与多种神经发育障碍相关的 9p24 处的新重复。
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DOCK8 regulates signal transduction events to control immunity.DOCK8调节信号转导事件以控制免疫。
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Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.在一组孤立性和综合征性发育迟缓/智力障碍的队列中进行拷贝数变异分析，揭示了新的基因组疾病、位置效应和候选疾病基因。
Clin Genet. 2017 Oct;92(4):415-422. doi: 10.1111/cge.13009. Epub 2017 Jul 25.
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Enrichment of small pathogenic deletions at chromosome 9p24.3 and 9q34.3 involving genes identified by using high-resolution oligonucleotide-single nucleotide polymorphism array analysis.利用高分辨率寡核苷酸单核苷酸多态性阵列分析鉴定出的涉及基因的9号染色体p24.3和9q34.3区域小致病性缺失的富集情况。
Mol Cytogenet. 2016 Nov 15;9:82. doi: 10.1186/s13039-016-0291-3. eCollection 2016.
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Current knowledge on the genetics of autism and propositions for future research.关于自闭症遗传学的当前知识及未来研究建议。
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