Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.

ABSTRACT:

Purpose

Heritable ectopic mineralization disorders comprise a group of conditions with a broad range of clinical manifestations in nonskeletal connective tissues. We report the genetic findings from a large international cohort of 478 patients afflicted with ectopic mineralization.

Methods

Sequence variations were identified using a next-generation sequencing panel consisting of 29 genes reported in association with ectopic mineralization. The pathogenicity of select splicing and missense variants was analyzed in experimental systems in vitro and in vivo.

Results

A total of 872 variants of unknown significance as well as likely pathogenic and pathogenic variants were disclosed in 25 genes. A total of 159 distinct variants were identified in 425 patients in ABCC6, the

SUBMITTER: Saeidian AH 

PROVIDER: S-EPMC8943706 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature