A Novel Dynamin 2 Mutation Causing Dominant Intermediate Charcot-Marie-Tooth Neuropathy: Case Report
Dynamin 2 mutations are associated with Charcot-Marie-Tooth neuropathy. We report two siblings with a novel missense heterozygous point mutation (c.1609 G>A) in the highly conserved pleckstrin homology domain in exon 15 of Dynamin 2 presenting with progressive length-dependent sensorimotor polyne...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2022-08-01
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| Series: | Journal of Investigative Medicine High Impact Case Reports |
| Online Access: | https://doi.org/10.1177/23247096221117801 |
| _version_ | 1828356849759420416 |
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| author | Carmela V. San Luis MD Coreen Schwartzlow MD Kenkichi Nozaki MD, PhD Eroboghene E. Ubogu MD |
| author_facet | Carmela V. San Luis MD Coreen Schwartzlow MD Kenkichi Nozaki MD, PhD Eroboghene E. Ubogu MD |
| author_sort | Carmela V. San Luis MD |
| collection | DOAJ |
| description | Dynamin 2 mutations are associated with Charcot-Marie-Tooth neuropathy. We report two siblings with a novel missense heterozygous point mutation (c.1609 G>A) in the highly conserved pleckstrin homology domain in exon 15 of Dynamin 2 presenting with progressive length-dependent sensorimotor polyneuropathy with mixed demyelinating and axonal features on electrodiagnostic studies. The previously unrecognized missense point mutation, which was inherited from their symptomatic but previously undiagnosed mother, was determined to be likely pathogenic based on a non-conservative amino acid substitution (p.Gly537Ser) that is predicted to damage secondary protein structure or function. This report emphasizes the importance of recognizing inherited neuropathies in clinical practice and evaluating suspected pathogenic gene variants initially classified to be of undetermined clinical significance in family cohorts. These cases add to the spectrum of pathogenic Dynamin 2 mutations associated with dominant-intermediate Charcot-Marie-Tooth neuropathy. |
| first_indexed | 2024-04-14T03:05:49Z |
| format | Article |
| id | doaj.art-398329859ded4f039c7597b4fc5a44dc |
| institution | Directory Open Access Journal |
| issn | 2324-7096 |
| language | English |
| last_indexed | 2024-04-14T03:05:49Z |
| publishDate | 2022-08-01 |
| publisher | SAGE Publishing |
| record_format | Article |
| series | Journal of Investigative Medicine High Impact Case Reports |
| spelling | doaj.art-398329859ded4f039c7597b4fc5a44dc2022-12-22T02:15:44ZengSAGE PublishingJournal of Investigative Medicine High Impact Case Reports2324-70962022-08-011010.1177/23247096221117801A Novel Dynamin 2 Mutation Causing Dominant Intermediate Charcot-Marie-Tooth Neuropathy: Case ReportCarmela V. San Luis MD0Coreen Schwartzlow MD1Kenkichi Nozaki MD, PhD2Eroboghene E. Ubogu MD3The University of Alabama at Birmingham, USAThe University of Alabama at Birmingham, USAThe University of Alabama at Birmingham, USAThe University of Alabama at Birmingham, USADynamin 2 mutations are associated with Charcot-Marie-Tooth neuropathy. We report two siblings with a novel missense heterozygous point mutation (c.1609 G>A) in the highly conserved pleckstrin homology domain in exon 15 of Dynamin 2 presenting with progressive length-dependent sensorimotor polyneuropathy with mixed demyelinating and axonal features on electrodiagnostic studies. The previously unrecognized missense point mutation, which was inherited from their symptomatic but previously undiagnosed mother, was determined to be likely pathogenic based on a non-conservative amino acid substitution (p.Gly537Ser) that is predicted to damage secondary protein structure or function. This report emphasizes the importance of recognizing inherited neuropathies in clinical practice and evaluating suspected pathogenic gene variants initially classified to be of undetermined clinical significance in family cohorts. These cases add to the spectrum of pathogenic Dynamin 2 mutations associated with dominant-intermediate Charcot-Marie-Tooth neuropathy.https://doi.org/10.1177/23247096221117801 |
| spellingShingle | Carmela V. San Luis MD Coreen Schwartzlow MD Kenkichi Nozaki MD, PhD Eroboghene E. Ubogu MD A Novel Dynamin 2 Mutation Causing Dominant Intermediate Charcot-Marie-Tooth Neuropathy: Case Report Journal of Investigative Medicine High Impact Case Reports |
| title | A Novel Dynamin 2 Mutation Causing Dominant Intermediate Charcot-Marie-Tooth Neuropathy: Case Report |
| title_full | A Novel Dynamin 2 Mutation Causing Dominant Intermediate Charcot-Marie-Tooth Neuropathy: Case Report |
| title_fullStr | A Novel Dynamin 2 Mutation Causing Dominant Intermediate Charcot-Marie-Tooth Neuropathy: Case Report |
| title_full_unstemmed | A Novel Dynamin 2 Mutation Causing Dominant Intermediate Charcot-Marie-Tooth Neuropathy: Case Report |
| title_short | A Novel Dynamin 2 Mutation Causing Dominant Intermediate Charcot-Marie-Tooth Neuropathy: Case Report |
| title_sort | novel dynamin 2 mutation causing dominant intermediate charcot marie tooth neuropathy case report |
| url | https://doi.org/10.1177/23247096221117801 |
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