A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy

A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy

GEMIN5 is a multifunctional RNA-binding protein required for the assembly of survival motor neurons. Several bi-allelic truncating and missense variants in this gene are reported to cause a neurodevelopmental disorder characterized by cerebellar atrophy, intellectual disability (ID), and motor dysfu...

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Bibliographic Details
Main Authors: Nazia Ibrahim, Shagufta Naz, Francesca Mattioli, Nicolas Guex, Saima Sharif, Afia Iqbal, Muhammad Ansar, Alexandre Reymond
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:Genes
Subjects:
TPR domain
neurodevelopmental disorder
cerebral atrophy
autosomal recessive
aspartic acid deletion
consanguinity
Online Access:https://www.mdpi.com/2073-4425/14/3/707

Internet

https://www.mdpi.com/2073-4425/14/3/707

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