A review of craniofacial disorders caused by spliceosomal defects.
Paris, France. In Clin Genet, Nov 2015
Mutations in several other genes involved in spliceosomal function or linked aspects of mRNA processing have also recently been identified in human disorders with specific craniofacial malformations: SF3B4 in Nager syndrome, an acrofacial dysostosis (AFD); SNRPB in cerebrocostomandibular syndrome, characterized by Robin sequence and rib defects; EIF4A3 in the AFD Richieri-Costa-Pereira syndrome, characterized by Robin sequence, median mandibular cleft and limb defects; and TXNL4A in Burn-McKeown syndrome, involving specific craniofacial dysmorphisms.
A novel common variant in DCST2 is associated with length in early life and height in adulthood.
Copenhagen, Denmark. In Hum Mol Genet, Mar 2015
Of the 180 known adult height loci, 11 were genome-wide significantly associated with infant length (SF3B4, LCORL, SPAG17, C6orf173, PTCH1, GDF5, ZNFX1, HHIP, ACAN, HLA locus and HMGA2).
Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome?
Marshfield, United States. In Am J Med Genet A, 2014
We report on the findings of a novel heterozygous de novo SF3B4 mutation in a long-surviving patient with clinical features of Rodriguez syndrome including severe acrofacial dysostosis, phocomelia with pre- and post-axial limb defects, fibular agenesis, rib, and shoulder girdle anomalies.
Association between genetic determinants of peak height velocity during puberty and predisposition to adolescent idiopathic scoliosis.
Nanjing, China. In Spine (phila Pa 1976), 2013
METHODS: A gene-based association study was conducted using 9 single nucleotide polymorphisms (SNPs) in or near SOCS2, SF3B4/SV2A, C17orf67, CABLES1, DOT1L, CDK6, C6orf106, and LIN28B with confirmed association with PHV, peak growth age, or adult height.
Molecular architecture of the multiprotein splicing factor SF3b.
Göttingen, Germany. In Science, 2003
determined the three-dimensional structure of the human SF3b complex by single-particle electron cryomicroscopy at a resolution of less than 10 angstroms, allowing identification of protein domains with known structural folds