Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease
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info:eu-repo/semantics/embargoedAccessTarih
2022Yazar
Marais, AnettBertoli-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
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Marais, A., Bertoli-Avella, A. M., Beetz, C., Altunoğlu, U., Alhashem, A., Mohamed, S. ... Bauer, P. (2022). Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease. European Journal of Medical Genetics, 65(8). http://doi.org/10.1016/j.ejmg.2022.104537Özet
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.
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European Journal of Medical GeneticsCilt
65Sayı
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