Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report
Abstract 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 betwee...
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| Main Authors: | , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Nature Publishing Group
2024-08-01
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| Series: | Human Genome Variation |
| Online Access: | https://doi.org/10.1038/s41439-024-00287-8 |
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| _version_ | 1832594898978603008 |
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| author | Kenta Hanada Yusuke Osaki Ryosuke Miyamoto Kohei Muto Shotaro Haji Keyoumu Nazere Yuki Kuwano Hiroyuki Morino Yoshiteru Azuma Satoko Miyatake Naomichi Matsumoto Yuishin Izumi |
| author_facet | Kenta Hanada Yusuke Osaki Ryosuke Miyamoto Kohei Muto Shotaro Haji Keyoumu Nazere Yuki Kuwano Hiroyuki Morino Yoshiteru Azuma Satoko Miyatake Naomichi Matsumoto Yuishin Izumi |
| author_sort | Kenta Hanada |
| collection | DOAJ |
| description | Abstract 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. |
| format | Article |
| id | doaj-art-54b1c44fef794adbb0022bc6f593acb7 |
| institution | Kabale University |
| issn | 2054-345X |
| language | English |
| publishDate | 2024-08-01 |
| publisher | Nature Publishing Group |
| record_format | Article |
| series | Human Genome Variation |
| spelling | doaj-art-54b1c44fef794adbb0022bc6f593acb72025-01-19T12:15:36ZengNature Publishing GroupHuman Genome Variation2054-345X2024-08-011111310.1038/s41439-024-00287-8Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case reportKenta Hanada0Yusuke Osaki1Ryosuke Miyamoto2Kohei Muto3Shotaro Haji4Keyoumu Nazere5Yuki Kuwano6Hiroyuki Morino7Yoshiteru Azuma8Satoko Miyatake9Naomichi Matsumoto10Yuishin Izumi11Department of Neurology, Tokushima University Graduate School of Biomedical SciencesDepartment of Neurology, Tokushima University Graduate School of Biomedical SciencesDepartment of Neurology, Tokushima University Graduate School of Biomedical SciencesDepartment of Neurology, Tokushima University Graduate School of Biomedical SciencesDepartment of Neurology, Tokushima University Graduate School of Biomedical SciencesDepartment of Medical Genetics, Tokushima University Graduate School of Biomedical SciencesDepartment of Medical Genetics, Tokushima University Graduate School of Biomedical SciencesDepartment of Medical Genetics, Tokushima University Graduate School of Biomedical SciencesDepartment of Human Genetics, Yokohama City University Graduate School of MedicineDepartment of Human Genetics, Yokohama City University Graduate School of MedicineDepartment of Human Genetics, Yokohama City University Graduate School of MedicineDepartment of Neurology, Tokushima University Graduate School of Biomedical SciencesAbstract 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.https://doi.org/10.1038/s41439-024-00287-8 |
| spellingShingle | Kenta Hanada Yusuke Osaki Ryosuke Miyamoto Kohei Muto Shotaro Haji Keyoumu Nazere Yuki Kuwano Hiroyuki Morino Yoshiteru Azuma Satoko Miyatake Naomichi Matsumoto Yuishin Izumi Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report Human Genome Variation |
| title | Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report |
| title_full | Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report |
| title_fullStr | Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report |
| title_full_unstemmed | Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report |
| title_short | Intermediate phenotype between CMT2Z and DIGFAN associated with a novel MORC2 variant: a case report |
| title_sort | intermediate phenotype between cmt2z and digfan associated with a novel morc2 variant a case report |
| url | https://doi.org/10.1038/s41439-024-00287-8 |
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