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.
Authors
- Satoko Miyatake (ORCID: https://orcid.org/0000-0001-7587-5168)
- Yuishin Izumi (ORCID: https://orcid.org/0000-0002-3048-9041)
- Yoshiteru Azuma (ORCID: https://orcid.org/0000-0002-5363-5638)
- Shotaro Haji (ORCID: https://orcid.org/0000-0003-4768-0317)
- Ryosuke Miyamoto (ORCID: https://orcid.org/0000-0001-6434-9541)
- Yusuke Osaki (ORCID: https://orcid.org/0000-0001-6588-5442)
- Keyoumu Nazere (ORCID: https://orcid.org/0009-0000-4318-6237)
- Hiroyuki Morino (ORCID: https://orcid.org/0000-0002-5190-3547)
- Naomichi Matsumoto (ORCID: https://orcid.org/0000-0001-9846-6500)
- Kohei Muto
- Yuki Kuwano
- Kenta Hanada (ORCID: https://orcid.org/0009-0005-6905-5071)
Institutions
- Yokkaichi Municipal Hospital (JP)
- Yokohama City University (JP)
- Tokushima University (JP)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2024-08-15
- DOI
- https://doi.org/10.1038/s41439-024-00287-8
- Citations
- 2
- Primary Topic
- Hereditary Neurological Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.54
Funders
- Japan Agency for Medical Research and Development