Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics.

ABSTRACT:

Background

Hereditary transthyretin (ATTRv) amyloidosis is a rare, adult-onset autosomal-dominant disorder caused by pathogenic variants in the transthyretin (TTR) gene. Data about relevant variants in specific populations and typical initial manifestations may facilitate early diagnosis and treatment. We here describe the genetic landscape of ATTRv amyloidosis in Israel.

Methods

Genetic and clinical data of TTR variant carriers and ATTRv amyloidosis patients were collected from a national referral clinic and other subspecialty clinics in Israel. Genotype-phenotype correlations of the detected variants were detailed. In addition, two large Israeli exome sequence (ES) databases were screened for TTR variants.

Results

Seven heterozygous disease-causing variants in TTR w

SUBMITTER: Dori A 

PROVIDER: S-EPMC11775909 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature