Novel SCN9A Mutations in a Compound Heterozygous Girl with Congenital Insensitivity to Pain

Bas Stunnenberg; Maria Ponson-Wever; Eline Verberne; Ivo Peters; Monique Gerrits; Charlotte Haaxma; Mieke van Haelst

doi:10.1055/s-0040-1714067

Journal of Pediatric Neurology, Table of Contents

Journal of Pediatric Neurology 2021; 19(03): 189-192
DOI: 10.1055/s-0040-1714067

Case Report

Novel SCN9A Mutations in a Compound Heterozygous Girl with Congenital Insensitivity to Pain

Bas Stunnenberg‡^*

¹Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands

,

Maria Ponson-Wever^*

²Department of Pediatrics, Dr. Horacio E. Oduber Hospital, Oranjestad, Aruba

,

Eline Verberne

³Department of Clinical Genetics, University of Amsterdam, Amsterdam, The Netherlands

,

Ivo Peters

⁴Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands

,

Monique Gerrits

⁵Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands

,

Charlotte Haaxma‡^*

⁴Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands

,

Mieke van Haelst‡^*

³Department of Clinical Genetics, University of Amsterdam, Amsterdam, The Netherlands

› Author Affiliations

Abstract

Congenital Insensitivity to Pain (CIP) is a rare disorder that is characterized by the inability to perceive pain. It is caused by bi-allelic inactivating mutations in the SCN9A gene, which encodes the pore-forming α-subunit of the nerve voltage-gated sodium channel (Na_v1.7). Patients with CIP are unable to feel pain from noxious stimuli, including heat, but all other peripheral somatosensory modalities function normally. Often anosmia is present as an additional feature. We reported a patient with CIP caused by compound heterozygous SCN9A mutations: a novel in-frame deletion of exon 7 and a novel frameshift mutation. The identification of these mutations expands the spectrum of mutations associated with CIP.

Keywords

congenital insensitivity to pain - SCN9A - anosmia

Full Text

References

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