Syndromic Craniosynostosis Can Define New Candidate Genes for Suture Development or Result from the Non-specifc Effects of Pleiotropic Genes: Rasopathies and Chromatinopathies as Examples

Frontiers in Neuroscience
Marcella ZollinoGiuseppe Marangi

Abstract

Craniosynostosis is a heterogeneous condition caused by the premature fusion of cranial sutures, occurring mostly as an isolated anomaly. Pathogenesis of non-syndromic forms of craniosynostosis is largely unknown. In about 15-30% of cases craniosynostosis occurs in association with other physical anomalies and it is referred to as syndromic craniosynostosis. Syndromic forms of craniosynostosis arise from mutations in genes belonging to the Fibroblast Growth Factor Receptor (FGFR) family and the interconnected molecular pathways in most cases. However it can occur in association with other gene variants and with a variety of chromosome abnormalities as well, usually in association with intellectual disability (ID) and additional physical anomalies. Evaluating the molecular properties of the genes undergoing intragenic mutations or copy number variations (CNVs) along with prevalence of craniosynostosis in different conditions and animal models if available, we made an attempt to define two distinct groups of unusual syndromic craniosynostosis, which can reflect direct effects of emerging new candidate genes with roles in suture homeostasis or a non-specific phenotypic manifestation of pleiotropic genes, respectively. RASopathies ...Continue Reading

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Citations

Feb 25, 2018·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Ai Peng Tan, Wui Khean Chong
Mar 17, 2020·The Journal of Craniofacial Surgery·An-Sofie VandeputConstantinus Politis
Dec 9, 2020·European Journal of Human Genetics : EJHG·Elin TønneKetil Riddervold Heimdal
Apr 4, 2021·Genes·Snir BonielKrzysztof Szczałuba
Aug 26, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Zerin HyderAndrew O M Wilkie

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Methods Mentioned

BETA
Nucleotide Exchange
acetylating

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