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

Laura Schultz-Rogers, Karthik Muthusamy, Filippo Pinto e Vairo, Eric W. Klee, Brendan Lanpher

Research output: Contribution to journalArticlepeer-review

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 cutis aplasia in one patient. Both patients have loss-of-function variants, helping to further characterize how these types of variants affect the phenotypic spectrum associated with TRIO. We also present the third reported case of autosomal dominant inheritance of a damaging variant in TRIO.

Original languageEnglish (US)
Article number219
JournalBMC Medical Genetics
Volume21
Issue number1
DOIs
StatePublished - Dec 2020

Keywords

  • Autism
  • Cutis aplasia
  • Macrocephaly
  • Microcephaly
  • TRIO gene

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report'. Together they form a unique fingerprint.

Cite this