Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report.

ABSTRACT:

Background

Damaging variants in TRIO have been associated with moderate to severe neurodevelopmental disorders in humans. While recent work has delineated the positional effect of missense variation on the resulting phenotype, the clinical spectrum associated with loss-of-function variation has yet to be fully defined.

Case presentation

We report on two probands with novel loss-of-function variants in TRIO. Patient 1 presents with a severe neurodevelopmental disorder and macrocephaly. The TRIO variant is inherited from his affected mother. Patient 2 presents with moderate developmental delays, microcephaly, and cutis aplasia with a frameshift variant of unknown inheritance.

Conclusions

We describe two patients with neurodevelopmental disorder, macro/microcephaly, and

SUBMITTER: Schultz-Rogers L 

PROVIDER: S-EPMC7654171 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature