Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease.

European journal of medical genetics 2022 Aug

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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. Copyright © 2022 Elsevier Masson SAS. All rights reserved.

Citation

Anett Marais, Aida M Bertoli-Avella, Christian Beetz, Umut Altunoglu, Amal Alhashem, Sarar Mohamed, Abdulaziz Alghamdi, Patrick Willems, Eirini Tsoutsou, Helena Fryssira, Roser Pons, Reem Almarzooq, Elif Yüksel Karatoprak, Akif Ayaz, Gökçen Ünverengil, Maria Calvo, Zafer Yüksel, Peter Bauer. Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease. European journal of medical genetics. 2022 Aug;65(8):104537