AI Article Synopsis
- The study reports a case of Charcot-Marie-Tooth disease type 4B3 (CMT4B3) in a mother and daughter caused by a new genetic mutation.
- Both patients showed early-onset symptoms with muscle atrophy but no cranial nerve effects, and tests indicated nerve issues.
- A novel missense mutation (c.1398C > A, p.H466Q) was identified, which alters a protein linked to the disease, helping to broaden the understanding of CMT4B3's genetic impact.
Article Abstract
Introduction: We present a case of autosomal dominant Charcot-Marie-Tooth disease type 4B3 (CMT4B3) in a family caused by a novel missense mutation.
Methods: Two patients, a mother and daughter, were recruited from our hospital. Both exhibited early-onset symptoms, including distal muscle atrophy of the limbs, without cranial nerve involvement. Electromyography was performed to assess nerve amplitudes and conduction velocities. Whole-exome sequencing (WES) and Sanger sequencing were performed to identify genetic mutations.
Results: Electromyography revealed a significant decline in nerve amplitudes, while the nerve conduction velocities (NCVs) remained normal in the extremities. Sequencing identified a novel missense mutation (c.1398C > A, p.H466Q) in exon 13 of the () gene in both patients, indicating an autosomal dominant inheritance pattern.
Discussion: Pathogenicity and protein predictions suggest that the myotubularin-related protein 5 (MTMR5), encoded by the mutated , may possess an altered structure, resulting in disease. These findings will help expand the phenotypic and genetic spectrum of CMT4B3.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11633322 | PMC |
| http://dx.doi.org/10.3389/fneur.2024.1495711 | DOI Listing |
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