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在另一名患有罗夫曼综合征的患者中扩展非编码基因突变的关键区域。

Extending the critical regions for mutations in the non-coding gene in another patient with Roifman Syndrome.

作者信息

Hallermayr Ariane, Graf Janine, Koehler Udo, Laner Andreas, Schönfeld Brigitte, Benet-Pagès Anna, Holinski-Feder Elke

机构信息

MGZ - Medical Genetics Center Munich Germany.

出版信息

Clin Case Rep. 2018 Oct 11;6(11):2224-2228. doi: 10.1002/ccr3.1830. eCollection 2018 Nov.

DOI:10.1002/ccr3.1830
PMID:30455926
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6230649/
Abstract

Compound heterozygosity of a previously described pathogenic variant and a second novel nucleotide substitution (NR_023343.1:n.116A>C) affecting a highly conserved nucleotide in the noncoding gene could be identified in a patient with overlapping features of Roifman Syndrome. These data extend the spectrum of pathogenic variants in .

摘要

在一名具有罗夫曼综合征重叠特征的患者中，可鉴定出一个先前描述的致病变异与另一个影响非编码基因中高度保守核苷酸的新型核苷酸替换（NR_023343.1:n.116A>C）的复合杂合性。这些数据扩展了……中致病变异的谱。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a114/6230649/a30fa0ba2fb0/CCR3-6-2224-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a114/6230649/a30fa0ba2fb0/CCR3-6-2224-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a114/6230649/a30fa0ba2fb0/CCR3-6-2224-g001.jpg

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本文引用的文献

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Am J Med Genet A. 2018 Feb;176(2):465-469. doi: 10.1002/ajmg.a.38581. Epub 2017 Dec 19.
2
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3
Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.
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BMJ Case Rep. 2022 Apr 21;15(4):e249109. doi: 10.1136/bcr-2022-249109.
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Time is of the essence: the molecular mechanisms of primary microcephaly.时间就是关键：原发性小头畸形的分子机制。
Genes Dev. 2021 Dec 1;35(23-24):1551-1578. doi: 10.1101/gad.348866.121.
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EMBO J. 2021 Jul 15;40(14):e106536. doi: 10.15252/embj.2020106536. Epub 2021 May 19.
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