On the association between Chiari malformation type 1, bone mineral density and bone related genes.

ABSTRACT:

Background

Chiari malformation type 1 (C1M) is a neurological disease characterized by herniation of the cerebellar tonsils below the foramen magnum. Cranial bone constriction is suspected to be its main cause. To date, genes related to bone development (e.g. DKK1 or COL1A2) have been associated with C1M, while some bone diseases (e.g. Paget) have been found to cosegregate with C1M. Nevertheless, the association between bone mineral density (BMD) and C1M has not been investigated, yet. Here, we systematically investigate the association between C1M and BMD, and between bone related genes and C1M.

Methods

We have recruited a small cohort of C1M patients (12 unrelated patients) in whom we have performed targeted sequencing of an in-house bone-related gene panel a

SUBMITTER: Martinez-Gil N 

PROVIDER: S-EPMC8933671 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature