More evidence on TRIO missense mutations in the spectrin repeat domain causing severe developmental delay and recognizable facial dysmorphism with macrocephaly.
Neurogenetics
; 22(3): 221-224, 2021 07.
Article
em En
| MEDLINE
| ID: mdl-34013494
ABSTRACT
TRIO is a Dbl family guanine nucleotide exchange factor (GEF) and an important regulator of neuronal development. Most truncating and missense variants affecting the Dbl homology domain of TRIO are associated with a neurodevelopmental disorder with microcephaly (MIM617061). Recently, de novo missense variants affecting the spectrin repeat region of TRIO were associated with a novel phenotype comprising severe developmental delay and macrocephaly (MIM618825). Here, we provide more evidence on this new TRIO-associated phenotype by reporting two severely affected probands with de novo missense variants in TRIO affecting the spectrin repeat region upstream of the typically affected GEF1 domain of the protein.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Espectrina
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Proteínas Serina-Treonina Quinases
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Mutação de Sentido Incorreto
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Fatores de Troca do Nucleotídeo Guanina
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Megalencefalia
Limite:
Humans
Idioma:
En
Revista:
Neurogenetics
Assunto da revista:
GENETICA
/
NEUROLOGIA
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Alemanha