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Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease
(Elsevier Masson s.r.l., 2022) Marais, Anett; Bertoli-Avella, Aida M.; Beetz, Christian; Altunoğlu, Umut; Alhashem, Amal; Mohamed, Sarar; Alghamdi, Abdulaziz; Willems, Patrick; Tsoutsou, Eirini; Fryssira, Helena; Pons, Roser; Almarzooq, Reem; Yüksel Karatoprak, Elif; Ayaz, Akif; Ünverengil, Gökçen; Calvo, Maria; Yüksel, Zafer; Bauer, Peter
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.