Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis—Literature Review
Charcot- Marie- Tooth (CMT) disease includes a group of clinically and genetically heterogeneous neuropathic disorders with an estimated frequency of 1 on 2.500 individuals. CMTs are differently classified according to the age of onset, type of inheritance, and type of inheritance plus clinical feat...
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| Format: | Article |
| Language: | English |
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Wiley
2022-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2022/3793226 |
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| author | M. Comella A. Collotta V. Pavone L. Ciccia A. Bellinvia C. Cerruto M. G. L. Biondi F. Pisani P. Pavone |
| author_facet | M. Comella A. Collotta V. Pavone L. Ciccia A. Bellinvia C. Cerruto M. G. L. Biondi F. Pisani P. Pavone |
| author_sort | M. Comella |
| collection | DOAJ |
| description | Charcot- Marie- Tooth (CMT) disease includes a group of clinically and genetically heterogeneous neuropathic disorders with an estimated frequency of 1 on 2.500 individuals. CMTs are differently classified according to the age of onset, type of inheritance, and type of inheritance plus clinical features. For these disorders, more than 100 genes have been implicated as causal factors, with mutations in the PMP22 being one of the most common. The demyelinating type (CMT1) affects more than 30% of the CMTs patients and manifests with motor and sensory dysfunctions of the peripheral nervous system mainly starting with slow progressive weakness of the lower extremities. We report here a 12 year- old boy presenting with typical features of CMT1 type, hearing impairment, and inguinal hernia who at the next-generation sequence analysis displayed a concomitant presence of two variants: the c.233 C>T p.Ser 78Leu of the MPZ gene (NM_000530.6) characterized as pathogenetic and the c.1403 G>A p.Arg 468His of the MFN2 gene (NM_014874.3) characterized as VUS. Concomitant variant mutations in CMTs have been uncommonly reported. The role of these gene mutations on the clinical expression and a literature review on this topic is discussed. |
| format | Article |
| id | doaj-art-cbc7d8b47c2c479a8785583bae72060e |
| institution | DOAJ |
| issn | 2090-6811 |
| language | English |
| publishDate | 2022-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-cbc7d8b47c2c479a8785583bae72060e2025-08-20T03:23:37ZengWileyCase Reports in Pediatrics2090-68112022-01-01202210.1155/2022/3793226Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis—Literature ReviewM. Comella0A. Collotta1V. Pavone2L. Ciccia3A. Bellinvia4C. Cerruto5M. G. L. Biondi6F. Pisani7P. Pavone8Postgraduate Training Program in PediatricsPostgraduate Training Program in PediatricsDepartment of General Surgery and Medical Surgical SpecialtiesPostgraduate Training Program in PediatricsPostgraduate Training Program in PediatricsPostgraduate Training Program in PediatricsPostgraduate Training Program in PediatricsChild Neuropsychiatric UnitUnit of Clinical PediatricsCharcot- Marie- Tooth (CMT) disease includes a group of clinically and genetically heterogeneous neuropathic disorders with an estimated frequency of 1 on 2.500 individuals. CMTs are differently classified according to the age of onset, type of inheritance, and type of inheritance plus clinical features. For these disorders, more than 100 genes have been implicated as causal factors, with mutations in the PMP22 being one of the most common. The demyelinating type (CMT1) affects more than 30% of the CMTs patients and manifests with motor and sensory dysfunctions of the peripheral nervous system mainly starting with slow progressive weakness of the lower extremities. We report here a 12 year- old boy presenting with typical features of CMT1 type, hearing impairment, and inguinal hernia who at the next-generation sequence analysis displayed a concomitant presence of two variants: the c.233 C>T p.Ser 78Leu of the MPZ gene (NM_000530.6) characterized as pathogenetic and the c.1403 G>A p.Arg 468His of the MFN2 gene (NM_014874.3) characterized as VUS. Concomitant variant mutations in CMTs have been uncommonly reported. The role of these gene mutations on the clinical expression and a literature review on this topic is discussed.http://dx.doi.org/10.1155/2022/3793226 |
| spellingShingle | M. Comella A. Collotta V. Pavone L. Ciccia A. Bellinvia C. Cerruto M. G. L. Biondi F. Pisani P. Pavone Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis—Literature Review Case Reports in Pediatrics |
| title | Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis—Literature Review |
| title_full | Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis—Literature Review |
| title_fullStr | Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis—Literature Review |
| title_full_unstemmed | Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis—Literature Review |
| title_short | Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis—Literature Review |
| title_sort | concomitant mpz and mfn2 gene variants and charcot marie tooth disease in a boy clinical and genetic analysis literature review |
| url | http://dx.doi.org/10.1155/2022/3793226 |
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