Hanada Kenta, Osaki Yusuke, Miyamoto Ryosuke, Muto Kohei, Haji Shotaro, Nazere Keyoumu, Kuwano Yuki, Morino Hiroyuki, Azuma Yoshiteru, Miyatake Satoko, Matsumoto Naomichi, Izumi Yuishin
Department of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
Naka Municipal Kaminaka Hospital, Naka, Japan.
Hum Genome Var. 2024 Aug 15;11(1):29. doi: 10.1038/s41439-024-00287-8.
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.
2Z型夏科-马里-图思病由MORC2基因突变引起，表现为轴索性神经病。MORC2基因突变也可表现为发育迟缓、生长障碍、面部畸形和轴索性神经病（DIGFAN）。我们报告了一名患者，其表现出与一种新型MORC2变异相关的这些疾病之间的中间表型。文献综述显示，MORC2相关疾病的基因型-表型相关性很复杂，同一突变可导致多种表型。
