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

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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 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.

Original languageEnglish
JournalJournal of Pediatric Neurology
DOIs
Publication statusAccepted/In press - 1 Jan 2020

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