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A disease-causing variant in HNRNPH2 inherited from an unaffected mother with skewed X-inactivation.从一位X染色体失活偏斜的未受影响母亲那里遗传来的HNRNPH2致病变异。
Am J Med Genet A. 2022 Feb;188(2):668-671. doi: 10.1002/ajmg.a.62549. Epub 2021 Oct 31.
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De novo frameshift variants of HNRNPU in patients with early infantile epileptic encephalopathy: Two case reports and literature review.HNRNPU 基因新发移码变异致早发性婴儿癫痫性脑病 2 例并文献复习
Int J Dev Neurosci. 2021 Nov;81(7):663-668. doi: 10.1002/jdn.10115. Epub 2021 Jun 16.
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HNRNPH1-related syndromic intellectual disability: Seven additional cases suggestive of a distinct syndromic neurodevelopmental syndrome.HNRNPH1 相关综合征性智力障碍：七例提示一种独特的综合征性神经发育障碍的附加病例。
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关于古斯塔夫森综合征是由RBMX中的框内缺失引起的，这与潜在的SH3结构域相互作用紊乱有关。

Comment on Gustavson syndrome is caused by an in-frame deletion in RBMX associated with potentially disturbed SH3 domain interactions.

作者信息

Gillentine Madelyn A

机构信息

Department of Laboratories, Seattle Children's Hospital, Seattle, WA, USA.

出版信息

Eur J Hum Genet. 2024 Mar;32(3):253-256. doi: 10.1038/s41431-023-01498-3. Epub 2023 Nov 29.

DOI:10.1038/s41431-023-01498-3
PMID:38017187
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10923807/
Abstract

Johansson et al. recently described the genetic diagnosis of a large family with Gusatvson syndrome. The pathogenic variant in this family is an in-frame deletion in , also known as . This work expands the definition of the HNRNP-Related Neurodevelopmental Disorders and provides insights into analyzing the related conditions.

摘要

约翰松等人最近描述了一个患有古斯塔夫森综合征的大家庭的基因诊断情况。该家族中的致病变异是 中的一个框内缺失，也称为 。这项工作扩展了与HNRNP相关的神经发育障碍的定义，并为分析相关病症提供了见解。