Identification of founder and novel mutations that cause congenital insensitivity to pain (CIP) in palestinian patients.

ABSTRACT:

Background

Congenital insensitivity to pain (CIP) is a rare autosomal recessive disorder characterized primarily by an inability to perceive physical pain from birth, resulting in the accumulation of bruising, inflammation, and fractures that affect patient's life expectancy. CIP has different forms including CIP and CIPA. CIP with Anhidrosis (CIPA) is the most common type of CIP, which is caused mainly by mutations in NTRK1 and NGF genes, and is characterized by mental retardation and the inability to sweat (Anhidrosis). Because of high consanguinity rates in Palestine, this rare disease appears to have a higher frequency than in other communities. However, there were no systematic studies to address the genetic factors that cause CIP in the Palestinian community.

Methods

I

SUBMITTER: Khaled B 

PROVIDER: S-EPMC10228059 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature