An adult patient with Tatton-Brown-Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy
© 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC..
Tatton-Brown-Rahman syndrome (TBRS) is a rare autosomal dominant overgrowth syndrome first reported in 2014 and caused by pathogenic variants in the DNA methyltransferase 3A (DNMT3A) gene. All individuals reported to date share a phenotype of somatic overgrowth, dysmorphic features, and intellectual disability. Peripheral neuropathy was not described in these cases. We report an adult patient with TBRS caused by a novel pathogenic DNMT3A variant (NM_175629.2: c.2036G>A, p.(Arg688His)) harboring an axonal length-dependent sensory-motor polyneuropathy. Extensive laboratory and molecular genetic work-up failed to identify alternative causes for this patient's neuropathy. We propose that axonal neuropathy may be a novel, age-dependent phenotypic feature in adults with TBRS and suggest that this syndrome should be considered in the differential diagnosis of patients with overgrowth, cognitive and psychiatric difficulties, and peripheral neuropathy.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:194 |
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| Enthalten in: |
American journal of medical genetics. Part A - 194(2024), 4 vom: 30. März, Seite e63484 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
AlSabah, Al-Alya [VerfasserIn] |
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| Links: |
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| Themen: |
Adult |
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| Anmerkungen: |
Date Completed 11.03.2024 Date Revised 11.03.2024 published: Print-Electronic Citation Status MEDLINE |
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| doi: |
10.1002/ajmg.a.63484 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
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| 245 | 1 | 3 | |a An adult patient with Tatton-Brown-Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy |
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| 520 | |a © 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC. | ||
| 520 | |a Tatton-Brown-Rahman syndrome (TBRS) is a rare autosomal dominant overgrowth syndrome first reported in 2014 and caused by pathogenic variants in the DNA methyltransferase 3A (DNMT3A) gene. All individuals reported to date share a phenotype of somatic overgrowth, dysmorphic features, and intellectual disability. Peripheral neuropathy was not described in these cases. We report an adult patient with TBRS caused by a novel pathogenic DNMT3A variant (NM_175629.2: c.2036G>A, p.(Arg688His)) harboring an axonal length-dependent sensory-motor polyneuropathy. Extensive laboratory and molecular genetic work-up failed to identify alternative causes for this patient's neuropathy. We propose that axonal neuropathy may be a novel, age-dependent phenotypic feature in adults with TBRS and suggest that this syndrome should be considered in the differential diagnosis of patients with overgrowth, cognitive and psychiatric difficulties, and peripheral neuropathy | ||
| 650 | 4 | |a Case Reports | |
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| 700 | 1 | |a Alsalmi, Mohammed |e verfasserin |4 aut | |
| 700 | 1 | |a Massie, Rami |e verfasserin |4 aut | |
| 700 | 1 | |a Bilodeau, Marie-Claude |e verfasserin |4 aut | |
| 700 | 1 | |a Campeau, Philippe M |e verfasserin |4 aut | |
| 700 | 1 | |a McGraw, Serge |e verfasserin |4 aut | |
| 700 | 1 | |a D'Agostino, Maria Daniela |e verfasserin |4 aut | |
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