‘Kinesinopathies’: emerging role of the kinesin family member genes in birth defects

Fetal structural anomalies can now be detected with increasing reliability during early pregnancy. The announcement of a serious conditionduring pregnancy or at birth is a devastating experience for the parents and the health professionals involved. The demand to find the cause is high to determine prognosis, clinical management and recurrence risks.  We review the current state of knowledge of the biological processes kinesin family member genes are involved in and discuss their emerging role in birth defects and congenital anomaly syndromes. We identify recurrent phenotype patterns caused by alterations in KIF genes, mirroring their fundamental role in cellular logistics. We suggest to understand these “kinesinopathies” as a recognizable entity with potential value for research approaches and clinical care. (By Silvia Kalantari and Isabel Filges, https://jmg.bmj.com/content/early/2020/05/19/jmedgenet-2019-106769 )

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