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.
journal_name
BMC Med Genetjournal_title
BMC medical geneticsauthors
Schultz-Rogers L,Muthusamy K,Pinto E Vairo F,Klee EW,Lanpher Bdoi
10.1186/s12881-020-01159-ysubject
Has Abstractpub_date
2020-11-10 00:00:00pages
219issue
1issn
1471-2350pii
10.1186/s12881-020-01159-yjournal_volume
21pub_type
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