First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features

First Replication of the Involvement of OTUD6B in Intellectual Disability Syndrome With Seizures and Dysmorphic Features

Biallelic mutations in the ovarian tumor domain-containing 6B (OTUD6B) gene, coding for a deubiquitinating enzyme, were recently described to cause an intellectual disability syndrome characterized by seizures and dysmorphic features in six families worldwide. We here report on a 6-year-old Italian...

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Bibliographic Details
Main Authors: Letizia Straniero, Valeria Rimoldi, Giulia Soldà, Melissa Bellini, Giacomo Biasucci, Rosanna Asselta, Stefano Duga
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-10-01
Series:Frontiers in Genetics
Subjects:
intellectual disability
seizures
dysmorphism
OTUD6B
deubiquitinase
splicing mutation
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2018.00464/full

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https://www.frontiersin.org/article/10.3389/fgene.2018.00464/full

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