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Article

Digenic impairments of haploinsufficient genes in patients with craniosynostosis.

JCI insight - 24 Feb 2025

Yu Jung Woo, Yoon Jihoon G, Han Chaerim, Noh Shin Hye, Shin Dong Min, Yang Yu-Mi, Kim Yong Oock, Shim Kyu-Won, Lee Min Goo

Abstract excerpt

Craniosynostosis (CRS) is characterized by the development of abnormal cranial suture ossification and premature fusion. Despite the identification of several associated genetic disorders, the genetic determinants of CRS remain poorly understood. In this study, we conducted integrative analyses on 225 exomes, comprising 121 CRS probands and 104 parental exomes (52 trios). These analyses encompassed de novo and...

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Identifiers

PMID: 39989454
DOI: 10.1172/jci.insight.176985
PMCID: PMC11949007

Genes

IL6ST
TRPS1

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