Variants in Chromatin Remodeling Genes Are Involved in Patients With Chiari Malformation Type 1.

ABSTRACT:

Objectives

Chiari malformation type 1 (CMI) is defined by the herniation of cerebellar tonsils of 5 mm or more, with possible neurological consequences, including compression of the neural tissue and/or anomalies in cerebral spinal fluid circulation. The etiology of CMI is not fully elucidated, with both genetic and environmental factors being involved. Several genes and pathways involved in bone development are pointed out like genes of the WNT, FGF, and BMP signaling pathways. More recently, the crucial role played by chromatin remodeling genes in the pathogenesis of CMI has increasingly emerged.

Methods

In this paper, we discuss a familial case of CMI and a single patient, harboring variants in chromatin remodeling genes, identified by whole exome sequencing.

Results</

SUBMITTER: Romano F 

PROVIDER: S-EPMC11795737 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature