Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy

Cilia are essential subcellular structures present on most cell types. Their alterations is associated with distinct disorders affecting development, particularly brain anomalies.

Many genes have been associated with primary ciliopathies, but some patients lack a molecular diagnosis.

Molecular analysis in a family with a malformation disorder identified mutations in TOGARAM1, which is conserved in nematodes where it is expressed in the cilium of a subset of sensory neurons.

Both cilium structure and behaviors controlled by these sensory neurons were affected in genetically modified worms expressing the corresponding human variants, confirming their pathogenic role and connecting TOGARAM1 to primary ciliopathies. (By Dr Eva Trevisson, https://jmg.bmj.com/content/early/2020/08/02/jmedgenet-2020-106833 )

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