Novel loss-of-function variants in TRIO are associated with neurodevelopmental disorder: case report.
BMC Med Genet
; 21(1): 219, 2020 11 10.
Article
em En
| MEDLINE
| ID: mdl-33167890
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtorno Autístico
/
Deficiências do Desenvolvimento
/
Proteínas Serina-Treonina Quinases
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Fatores de Troca do Nucleotídeo Guanina
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Megalencefalia
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Microcefalia
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Adolescent
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Revista:
BMC Med Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Estados Unidos