An adult patient with Tatton-Brown-Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy.
Am J Med Genet A
; 194(4): e63484, 2024 Apr.
Article
em En
| MEDLINE
| ID: mdl-38041495
ABSTRACT
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.
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Base de dados:
MEDLINE
Assunto principal:
Polineuropatias
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Anormalidades Múltiplas
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Deficiência Intelectual
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Anormalidades Musculoesqueléticas
Limite:
Adult
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Humans
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article