由MORC2的新生变异引起的科凯恩样表型:扩大MORC2相关疾病的表型

IF 1.6 4区 医学 Q3 CLINICAL NEUROLOGY Neurogenetics Pub Date : 2022-10-01 Epub Date: 2022-08-03 DOI:10.1007/s10048-022-00697-2
Amytice Mirchi, Alexa Derksen, Luan T Tran, Isabelle De Bie, Amélie Nadeau, Audrey Lovett, Anja Raams, Wim Vermeulen, Arjan F Theil, Geneviève Bernard
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引用次数: 3

摘要

柯凯因综合征是一种罕见的遗传性DNA修复多系统疾病。在这里,我们的目的是提高人们对柯凯因综合征和MORC2致病变异引起的神经发育障碍之间表型相似性的认识,MORC2基因也参与DNA修复。通过外显子组测序,我们在我们的患者中发现了MORC2的新生致病变异。本例患者的表型具有多种特征,使人联想到柯凯因综合征。根据我们患者的表型,除了文献中报道的MORC2致病性变异体患者的表型描述外,我们认为该基因的致病性变异体与科凯恩样表型相关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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A Cockayne-like phenotype resulting from a de novo variant in MORC2: expanding the phenotype of MORC2-related disorders.

Cockayne syndrome is a rare inherited DNA repair multisystemic disorder. Here, we aim to raise awareness of the phenotypic resemblances between Cockayne syndrome and the neurodevelopmental disorder caused by pathogenic variants in MORC2, a gene also involved in DNA repair. Using exome sequencing, we identified a de novo pathogenic variant in MORC2 in our patient. Our patient's phenotype was characterized by multiple features evocative of Cockayne syndrome. Based on our patient's phenotype, in addition to the phenotypic description of patients with pathogenic variants in MORC2 reported in the literature, we suggest that pathogenic variants in this gene are associated with a Cockayne-like phenotype.

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来源期刊
Neurogenetics
Neurogenetics 医学-临床神经学
CiteScore
3.90
自引率
0.00%
发文量
24
审稿时长
6 months
期刊介绍: Neurogenetics publishes findings that contribute to a better understanding of the genetic basis of normal and abnormal function of the nervous system. Neurogenetic disorders are the main focus of the journal. Neurogenetics therefore includes findings in humans and other organisms that help understand neurological disease mechanisms and publishes papers from many different fields such as biophysics, cell biology, human genetics, neuroanatomy, neurochemistry, neurology, neuropathology, neurosurgery and psychiatry. All papers submitted to Neurogenetics should be of sufficient immediate importance to justify urgent publication. They should present new scientific results. Data merely confirming previously published findings are not acceptable.
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