Your browser doesn't support javascript.
loading
Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children.
Figueiredo, Fernanda Barbosa; Tomaselli, Pedro José; Hallak, Jaime; Mattiello-Sverzut, Ana Cláudia; Covaleski, Anna Paula Paranhos Miranda; Sobreira, Cláudia Ferreira da Rosa; de Paula Gouvêa, Silmara; Marques, Wilson.
Afiliação
  • Figueiredo FB; Neuroscience and Behavior Sciences Department, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
  • Tomaselli PJ; Neuroscience and Behavior Sciences Department, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
  • Hallak J; Neuroscience and Behavior Sciences Department, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
  • Mattiello-Sverzut AC; National Institute of Sciences and Technology-INCT-Translational Medicine-CNPq/FAPESP, Ribeirao Preto, Brazil.
  • Covaleski APPM; Health Science Department, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
  • Sobreira CFDR; Neurology Department, Federal University of Pernambuco, Recife, Brazil.
  • de Paula Gouvêa S; Neuroscience and Behavior Sciences Department, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
  • Marques W; Neuroscience and Behavior Sciences Department, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.
J Peripher Nerv Syst ; 29(1): 97-106, 2024 Mar.
Article em En | MEDLINE | ID: mdl-38375759
ABSTRACT
BACKGROUND AND

AIMS:

The genetic epidemiology of inherited neuropathies in children remains largely unknown. In this study, we specifically investigated the genetic profile of a Brazilian cohort of pediatric patients with pure or complex axonal neuropathies, a crucial knowledge in the near future for establishing treatment priorities and perspectives for this group of patients.

METHODS:

Fifty-three pediatric patients who were assessed prior to reaching the age of 20, and who had clinical diagnoses of axonal hereditary neuropathy or presented with axonal neuropathy as the primary clinical feature, were included in the study. The recruitment of these cases took place from January 1, 2018, to December 31, 2020. The diagnosis was based on clinical and electrophysiological data. A molecular assessment was made using target-gene panel or whole-exome sequencing. Subsequently, segregation analysis was performed on available family members, and all candidate variants found were confirmed through Sanger.

RESULTS:

A molecular diagnosis was reached in 68% of the patients (n = 36/53), considering only pathogenic and probably pathogenic variants. Variants in MFN2 (n = 15) and GJB1 (n = 3) accounted for half of the genetically confirmed patients (50%; n = 18/36). The other 18 genetically diagnosed patients had variants in several less common genes.

INTERPRETATION:

Apart from MFN2 and GJB1 genes, universally recognized as a frequent cause of axonal neuropathies in most studied population, our Brazilian cohort of children with axonal neuropathies showed an important genetic heterogeneity, probably reflecting the multi ethnicity of the Brazilian population. Diagnostic, counseling, and future interventions should consider this characteristic.
Assuntos
Palavras-chave
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth Limite: Child / Humans País/Região como assunto: America do sul / Brasil Idioma: En Revista: J Peripher Nerv Syst Assunto da revista: NEUROLOGIA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doença de Charcot-Marie-Tooth Limite: Child / Humans País/Região como assunto: America do sul / Brasil Idioma: En Revista: J Peripher Nerv Syst Assunto da revista: NEUROLOGIA Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Brasil País de publicação: Estados Unidos