Article
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease.
European journal of medical genetics - 1 Aug 2022
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, Ayaz Akif, Ünverengil Gökçen, Calvo Maria, Yüksel Zafer, Bauer Peter
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.