Journal of Pediatric Neurology
DOI: 10.1055/s-0040-1714067
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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

Bas Stunnenberg*
1  Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands
,
Maria Ponson-Wever*
2  Department of Pediatrics, Dr. Horacio E. Oduber Hospital, Oranjestad, Aruba
,
Eline Verberne
3  Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands
,
Ivo Peters
4  Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands
,
Monique Gerrits
5  Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands
,
Charlotte Haaxma*
4  Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands
,
Mieke van Haelst*
3  Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands
› Author Affiliations
Further Information

Publication History

07 March 2020

18 May 2020

Publication Date:
05 August 2020 (online)

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 (Nav1.7). 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 report 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.

Consent Disclosure

The patient her parents gave written informed consent for publication.


* These authors equally contributed to this work.