Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varon syndrome.

ABSTRACT:

Purpose

Biallelic variants in FIG4 or VAC14 are associated with Yunis-Varón syndrome (YVS), which is characterized by multisystem involvement including skeletal findings, craniofacial dysmorphisms and central nervous system anomalies. Pathogenic variants in those same genes have also been associated with a predominantly neurological phenotype and with nonsyndromic conditions, such as Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis. By describing 5 new cases of FIG4-associated YVS and reviewing the literature, we better delineate the clinical phenotype associated with loss of function of those genes. We also explore osteopenia mechanisms by assessing bone physiologic parameters in a mouse model.

Methods

Exome sequencing or Sanger sequencing

SUBMITTER: Beauregard-Lacroix E 

PROVIDER: S-EPMC11613851 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature