Novel SCN9A variant associated with congenital insensitivity to pain.

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. Whole exome sequencing analysis revealed the presence of a novel nonsense, homozygous SCN9A pathogenic variant: SCN9A (NM_001365536.1): c.4633G > T, p.(Glu1545*) in exon 26. Our three Lebanese patients had CIP, urinary incontinence and normal olfactory function while two of them also presented with osteoporosis and osteoarthritis; this association of features has not been previously reported in the literature. We hope that this report would contribute to a better delineation of the phenotypic spectrum associated with SCN9A pathogenic variants. © 2023. The Author(s), under exclusive licence to Springer Nature B.V.

Citation

Tony Yammine, Raffi Aprahamian, Mirna Souaid, Nabiha Salem, Johnny Awwad, Chantal Farra. Novel SCN9A variant associated with congenital insensitivity to pain. Molecular biology reports. 2023 Jul;50(7):6293-6298

Mesh Tags

Substances

PMID: 37231219

search → result