Two families have been described with recessive splice-site mutations (NM_019024.2: c.5051-1G>A and c.5050+4A>G), suggesting a partial loss-of-function. This was confirmed for one of the alleles, where the mutation results in intron retention and reduced protein expression (Ghosh et al. 2021). This is further supported by the embryonic lethality of a frameshift loss-of-function allele in mouse if homozygous.
Both mutations were found by whole-exome sequencing, as they are in close proximity to the exons.
HEATR5B