Autosomal Dominant Osteopetrosis (ADO) Caused by a Missense Variant in the TCIRG1 Gene.

Wade JodehAmy J KatzMarian HartStuart J WardenPaul NiziolekImranul AlamSteven W IngLynda E PolgreenErik A ImelMichael J Econs

Published in: The Journal of clinical endocrinology and metabolism (2024)

This is the first description of adult presentation of ADO caused by a TCIRG1 variant. Similar to families with ADO from CLCN7 mutations, this variant in TCIRG1 results in marked phenotype variability, with 2 subjects having severe disease and the third having very mild disease. This family report implicates TCIRG1 missense mutations as a cause of ADO and demonstrates that the marked phenotypic variability in ADO may extend to disease caused by TCIRG1 missense mutations.

Keyphrases

intellectual disability
gene expression
early onset
genome wide
dna methylation
copy number
case report