Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease
Date
2022Author
Ünverengil, Gökçen
Bauer, Peter
Ayaz, Akif
Calvo, Maria
Yüksel, Zafer
Marais, Anett
Bertoli-Avella, Aida M.
Beetz, Christian
Altunoglu, Umut
Alhashem, Amal
Mohamed, Sarar
Alghamdi, Abdulaziz
Willems, Patrick
Tsoutsou, Eirini
Fryssira, Helena
Pons, Roser
Almarzooq, Reem
Karatoprak, Elif Yüksel
Metadata
Show full item recordAbstract
© 2022 Elsevier Masson SASTranscriptional 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.
URI
http://hdl.handle.net/20.500.12627/187364https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85132335769&origin=inward
https://doi.org/10.1016/j.ejmg.2022.104537
Collections
- Makale [92796]