Article
Novel SCN9A variant associated with congenital insensitivity to pain.
Molecular biology reports - 1 Jul 2023
Yammine Tony, Aprahamian Raffi, Souaid Mirna, Salem Nabiha, Awwad Johnny, Farra Chantal
Abstract excerpt
BACKGROUND: Congenital insensitivity to pain (CIP) is a rare autosomal recessive syndrome characterized by lack of pain perception and a wide spectrum of clinical signs such as anosmia and hyposmia. Variants in SCN9A gene are associated with CIP. We here report on a Lebanese family with three CIP patients referred for genetic investigations. METHODS AND RESULTS: Whole exome sequencing analysis revealed the...
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