Mutations in Phospholipase C eta-1 (PLCH1) are associated with Holoprosencephaly

Holoprosencephaly is a rare neurodevelopmental syndrome in which the brain doesn’t properly divide into the right and the left hemispheres. The condition can be caused by mutations in different genes. Our study descrides two families in which offspring had holoprosencephaly with mutations in a new gene called phospholipase C eta-1 (PLCH1). In the physiological condition, we found that PLCH1 protein was present in the human embryonic brain and its expression is exculsively cytoplasmic. But because of the mutations, PLCH1 was present predominantly in the nucleus in the first family and totally absent in the second family. Our study supports the contention that PLCH1 has a role in prenatal neurodevelopment and  deleterious variants cause Holoprosencephaly.  (Dr Ichrak Drissi, https://jmg.bmj.com/content/early/2021/04/04/jmedgenet-2020-107237 )

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