Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease
European Journal of Medical Genetics, cilt.65, sa.8, 2022 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 65 Sayı: 8
- Basım Tarihi: 2022
- Doi Numarası: 10.1016/j.ejmg.2022.104537
- Dergi Adı: European Journal of Medical Genetics
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
- Anahtar Kelimeler: ASC-1, ASCC1, Myopathy, Spinal muscular atrophy, Transcriptional coregulator, TRIP4, MUTATIONS, DATABASE
- İstanbul Üniversitesi Adresli: Evet
Özet
© 2022 Elsevier Masson SASTranscriptional 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.