Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in the TRIP4 gene have been associated with spinal muscular atrophy with bone fractures as well as a seve...

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Veröffentlicht in:	European journal of human genetics : EJHG 2021-09, Vol.29 (9), p.1348-1353
Hauptverfasser:	Töpf, Ana, Pyle, Angela, Griffin, Helen, Matalonga, Leslie, Schon, Katherine, Sickmann, Albert, Schara-Schmidt, Ulrike, Hentschel, Andreas, Chinnery, Patrick F, Kölbel, Heike, Roos, Andreas, Horvath, Rita
Format:	Artikel
Sprache:	eng
Schlagworte:	Atrophy Brief Communication Cerebellum Cerebellum - abnormalities Cerebellum - pathology Developmental Disabilities - genetics Developmental Disabilities - pathology Exome Fibroblasts Fractures Genetic Testing - methods Human health and pathology Humans Hypoplasia Infant Life Sciences Male Muscular Atrophy, Spinal - genetics Muscular Atrophy, Spinal - pathology Muscular dystrophy Nervous System Malformations - genetics Nervous System Malformations - pathology Neuromuscular diseases Pathogenicity Phenotypes Proteome Proteomics RNA processing Sequence analysis Spinal muscular atrophy Tissues and Organs Transcription Transcription Factors - genetics Transcription Factors - metabolism
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