Prevalence
The UBR5-related neurodevelopmental syndrome (also known as NEDSBH for Neurodevelopmental disorder with speech delay and behavioural abnormalities) is rare with the prevalence currently unknown. Only one cohort of 29 individuals has been reported.
Clinical Characteristics
The UBR5-related neurodevelopmental syndrome is characterized by neurodevelopmental disorders, in most individuals, that include developmental delay, autism, intellectual disability and epilepsy. Movement disorders, genital and cardiac anomalies may also be observed.
Inheritance
Monoallelic variants in UBR5were found in 28/29 individuals and a biallelic variant in one.
24/29 pathogenic variants were de novo, 2/29 had unknown inheritance, and 2/29 were maternally inherited. In one of those families, the mother had dystonia, chorea, cognitive decline, seizure-like activity, and migraines. In the other proband, there was a maternal mosaicism in a healthy woman. One individual had inherited two variants in trans, one from each unaffected parent, his phenotype was more severe.
UBR5