Prevalence
The HEATR5B-related disease is rare and its prevalence is unknown.
Clinical Characteristics
Individuals with HEATR5B-related disease show motor and developmental delay / intellectual disability and neonatal seizures. Brain imaging shows prominent pontocerebellar and generalized atrophy.
Molecular Characteristics
Two families have been described with recessive splice-site mutations, suggesting a partial loss-of-function. This is supported by the embryonic lethality of a frameshift loss-of-function allele in mouse if homozygous.
Genetic Conselling
Affected individuals were recessive for the observed mutations, whereas the heterozygous parents did not exhibit any phenotypes. It is expected that in most cases parents either carry the same or different mutations resulting in homozygousity or compound heterozygosity in the offspring, respectively. Thus, recurrence risk will typically be 25%, unless one of the two mutated alleles is de novo.
Management
There are no established treatment guidelines, but treatment is expected to be symptomatic and multidisciplinary.
HEATR5B