与新型 MORC2 变异相关的 CMT2Z 和 DIGFAN 之间的中间表型：一份病例报告。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2024-08-15 DOI:10.1038/s41439-024-00287-8

Kenta Hanada, Yusuke Osaki, Ryosuke Miyamoto, Kohei Muto, Shotaro Haji, Keyoumu Nazere, Yuki Kuwano, Hiroyuki Morino, Yoshiteru Azuma, Satoko Miyatake, Naomichi Matsumoto, Yuishin Izumi

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引用次数: 0

摘要

Charcot-Marie-Tooth 病 2Z 型由 MORC2 突变引起，表现为轴索神经病变。MORC2 突变也可表现为发育迟缓、生长受阻、畸形面容和轴索神经病（DIGFAN）。我们报告了一名与新型 MORC2 变异相关的患者，该患者的表型介于上述疾病之间。文献综述显示，MORC2 相关疾病的基因型与表型之间的相关性非常复杂，同一基因突变可导致多种表型。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report.

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Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report.

Charcot-Marie-Tooth disease type 2Z is caused by MORC2 mutations and presents with axonal neuropathy. MORC2 mutations can also manifest as developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN). We report a patient exhibiting an intermediate phenotype between these diseases associated with a novel MORC2 variant. A literature review revealed that the genotype‒phenotype correlation in MORC2-related disorders is complex and that the same mutation can cause a variety of phenotypes.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks