A novel mutation in the SCN9A gene associated with congenital insensitivity to pain, anhidrosis, and mild cognitive impairment.
Pediatr Dermatol
; 41(1): 80-83, 2024.
Article
em En
| MEDLINE
| ID: mdl-37345838
ABSTRACT
Congenital insensitivity to pain (CIP) is a rare phenotype characterized by the inability to perceive pain stimuli with subsequent self-injuries, whereas CIP associated with anhidrosis (CIPA) is an overlapping phenotype mainly characterized by insensitivity to noxious stimuli and anhidrosis. CIP is primarily associated with pathogenetic variants in the SCN9A gene while CIPA is associated with pathogenetic variants in NGF and NRTK genes. However, in recent years, a significant overlap between these two disorders has been observed highlighting the presence of anhidrosis in SCN9A variants. We report the cases of two siblings (age 4 and 6 years) born from consanguineous parents presenting with a previously undescribed phenotype due to a novel pathogenic variant in SCN9A clinically characterized by congenital insensitivity to pain, anhidrosis, and mild cognitive impairment.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Propionatos
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Neuropatias Hereditárias Sensoriais e Autônomas
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Insensibilidade Congênita à Dor
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Canalopatias
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Disfunção Cognitiva
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Hipo-Hidrose
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Indóis
Tipo de estudo:
Risk_factors_studies
Limite:
Child
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Child, preschool
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Humans
Idioma:
En
Revista:
Pediatr Dermatol
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Itália
País de publicação:
EEUU
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ESTADOS UNIDOS
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ESTADOS UNIDOS DA AMERICA
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EUA
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UNITED STATES
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UNITED STATES OF AMERICA
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US
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USA