European journal of medical genetics · 2022
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease.
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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
Аннотация
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.