Clinical and genetic analysis of a family with transthyretin amyloid polyneuropathy caused by a TTR Lys55Asn mutation.

ABSTRACT:

Background

transthyretin-mediated familial amyloid polyneuropathy (ATTR-PN), caused by TTR gene mutations, leads to systemic amyloid deposition and multisystem dysfunction. The c.165G > C (p.Lys55Asn) mutation is a rare variant with limited clinical data. This study investigates a family with this mutation, focusing on genotype-phenotype correlations and clinical challenges.

Methods

We conducted a detailed clinical analysis of a family with ATTR-PN, using whole exome sequencing to identify the transthyretin (TTR) mutation. Clinical data from 17 affected individuals were collected, including symptom onset, disease progression, and outcomes. Electromyography and gastric emptying studies were performed to assess peripheral nerve and gastrointestinal function.

Results

The

SUBMITTER: Qian N 

PROVIDER: S-EPMC12817533 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature