The lecturer Dr. Hadeel Adel al-Lami, a professor from the college of dentistry at the University of Baghdad has published recently a scientific research entitled the “Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis” in the European Journal of Human Genetics – Nature. This study addressed the topic of craniosynostosis as a birth defect occurring in approximately one in 2000 live births, where premature fusion of the cranial bones inhibits growth of the skull during critical periods of brain development, result in a set of changes in skull shape that can lead to the compression of the brain and causing severe complications. Dr. Hadeel al-Lami confirmed that a large proportion of cases are of unknown genetic aetiology and based on studies in mouse, she proposed that the ciliopathy gene Fuz should be considered a candidate craniosynostosis gene, i.e, a novel variant of FUZ (c.851 G > C, p.
Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis
