Article
Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
Acta neuropathologica communications - 25 Jul 2014
Fallet-Bianco Catherine, Laquerrière Annie, Poirier Karine, Razavi Ferechte, Guimiot Fabien, Dias Patricia, Loeuillet Laurence, Lascelles Karine, Beldjord Cherif, Carion Nathalie, Toussaint Aurélie, Revencu Nicole, Addor Marie-Claude, Lhermitte Benoit, Gonzales Marie, Martinovich Jelena, Bessieres Bettina, Marcy-Bonnière Maryse, Jossic Frédérique, Marcorelles Pascale, Loget Philippe, Chelly Jamel, Bahi-Buisson Nadia
Abstract excerpt
Complex cortical malformations associated with mutations in tubulin genes are commonly referred to as "Tubulinopathies". To further characterize the mutation frequency and phenotypes associated with tubulin mutations, we studied a cohort of 60 foetal cases. Twenty-six tubulin mutations were identified, of which TUBA1A mutations were the most prevalent (19 cases), followed by TUBB2B (6 cases) and TUBB3 (one case)....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.