{"id":1623,"date":"2021-04-07T14:44:22","date_gmt":"2021-04-07T14:44:22","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1623"},"modified":"2026-02-23T22:58:48","modified_gmt":"2026-02-23T22:58:48","slug":"mutations-in-phospholipase-c-eta-1-plch1-are-associated-with-holoprosencephaly","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/04\/07\/mutations-in-phospholipase-c-eta-1-plch1-are-associated-with-holoprosencephaly\/","title":{"rendered":"Mutations in Phospholipase C eta-1 (PLCH1) are associated with Holoprosencephaly (Contributed by Dr Ichrak Drissi)"},"content":{"rendered":"

Holoprosencephaly is a rare neurodevelopmental syndrome in which the brain doesn\u2019t 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 \u00a0deleterious variants cause Holoprosencephaly. \u00a0(https:\/\/jmg.bmj.com\/content\/early\/2021\/04\/04\/jmedgenet-2020-107237<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Holoprosencephaly is a rare neurodevelopmental syndrome in which the brain doesn\u2019t 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, […]<\/p>\n

Read More…<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1623","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nMutations in Phospholipase C eta-1 (PLCH1) are associated with Holoprosencephaly (Contributed by Dr Ichrak Drissi) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/04\/07\/mutations-in-phospholipase-c-eta-1-plch1-are-associated-with-holoprosencephaly\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mutations in Phospholipase C eta-1 (PLCH1) are associated with Holoprosencephaly (Contributed by Dr Ichrak Drissi) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Holoprosencephaly is a rare neurodevelopmental syndrome in which the brain doesn\u2019t 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). 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