Novel
Alleles
Amino Acid Substitution
Arthrogryposis
/ diagnosis
Biopsy
Carrier Proteins
/ genetics
DNA Mutational Analysis
Fractures, Bone
/ congenital
Genetic Association Studies
Genetic Predisposition to Disease
Genotype
Humans
Infant
Muscle Weakness
/ genetics
Mutation
Pedigree
Phenotype
Severity of Illness Index
Exome Sequencing
ASC-1
ASCC1
TRIP4
bone fractures
myopathy
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
09 2019
09 2019
Historique:
received:
21
03
2018
revised:
03
08
2018
accepted:
22
09
2018
pubmed:
18
10
2018
medline:
12
6
2020
entrez:
18
10
2018
Statut:
ppublish
Résumé
The activating signal cointegrator 1 (ASC-1) complex acts as a transcriptional coactivator for a variety of transcription factors and consists of four subunits: ASCC1, ASCC2, ASCC3 and TRIP4. A single homozygous mutation in We aim to contribute to a better understanding of the ASCC1-related disorder. Here, we provide a clinical, histological and genetic description of three additional ASCC1 families. All patients presented with severe prenatal-onset muscle weakness, neonatal hypotonia and arthrogryposis, and congenital bone fractures. The muscle biopsies from the affected infants revealed intense oxidative rims beneath the sarcolemma and scattered remnants of sarcomeres with enlarged Z-bands, potentially representing a histopathological hallmark of the disorder. Sequencing identified recessive nonsense or frameshift mutations in Overall, this work expands the
Sections du résumé
BACKGROUND
The activating signal cointegrator 1 (ASC-1) complex acts as a transcriptional coactivator for a variety of transcription factors and consists of four subunits: ASCC1, ASCC2, ASCC3 and TRIP4. A single homozygous mutation in
OBJECTIVE
We aim to contribute to a better understanding of the ASCC1-related disorder.
METHODS
Here, we provide a clinical, histological and genetic description of three additional ASCC1 families.
RESULTS
All patients presented with severe prenatal-onset muscle weakness, neonatal hypotonia and arthrogryposis, and congenital bone fractures. The muscle biopsies from the affected infants revealed intense oxidative rims beneath the sarcolemma and scattered remnants of sarcomeres with enlarged Z-bands, potentially representing a histopathological hallmark of the disorder. Sequencing identified recessive nonsense or frameshift mutations in
CONCLUSION
Overall, this work expands the
Identifiants
pubmed: 30327447
pii: jmedgenet-2018-105390
doi: 10.1136/jmedgenet-2018-105390
doi:
Substances chimiques
ASCC1 protein, human
0
Carrier Proteins
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
617-621Informations de copyright
© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.