Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.

ABSTRACT:

Background

De novo variants are a common cause to rare intellectual disability syndromes, associated with low recurrence risk. However, when such variants occur pre-zygotically in parental germ cells, the recurrence risk might be higher. Still, the recurrence risk estimates are mainly based on empirical data and the prevalence of germline mosaicism is often unknown.

Methods

To establish the prevalence of mosaicism in parents of children with intellectual disability syndromes caused by de novo variants, we performed droplet digital PCR on DNA extracted from blood (43 trios), and sperm (31 fathers).

Results

We detected low-level mosaicism in sperm-derived DNA but not in blood in the father of a child with Kleefstra syndrome caused by an EHMT1 variant. Additionally, we f

SUBMITTER: Frisk S 

PROVIDER: S-EPMC9000944 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature