Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease.
Eur J Med Genet
; 65(8): 104537, 2022 Aug.
Article
em En
| MEDLINE
| ID: mdl-35690317
ABSTRACT
Transcriptional coregulators modulate the efficiency of transcription factors. Bi-allelic variants in TRIP4 and ASCC1, two genes that encode members of the tetrameric coregulator ASC-1, have recently been associated with congenital bone fractures, hypotonia, and muscular dystrophy in a total of 22 unrelated families. Upon exome sequencing and data repository mining, we identified six new patients with pathogenic homozygous variants in either TRIP4 (n = 4, two novel variants) or ASCC1 (n = 2, one novel variant). The associated clinical findings confirm and extend previous descriptions. Considering all patients reported to date, we provide supporting evidence suggesting that ASCC1-related disease has a more severe phenotype compared to TRIP4-related disorder regarding higher incidence of perinatal bone fractures and shorter survival.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Fraturas Ósseas
/
Doenças Musculares
/
Malformações do Sistema Nervoso
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article