SF3B4, splicing factor 3b subunit 4, 10262

N. diseases: 110; N. variants: 22
Disease: Nager syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 GeneticVariation disease BEFREE An SF3B4 mutation was found in our patient, prompting a review of the previous known cases of Rodriguez syndrome, which revealed no clustering of SF3B4 mutations, and four cases of Rodriguez syndrome with mutations identical to those in cases of Nager syndrome. 30924273 2019
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 GeneticVariation disease BEFREE A significant association with 1st-year height SD score increase during GH treatment was observed with rs11205277, located near 4 known genes: MTMR11, SV2A, HIST2H2AA3, and SF3B4; the latter, in which heterozygous mutations occur in Nager acrofacial dysostosis, appears the most relevant gene. 30970347 2019
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 GeneticVariation disease BEFREE In this work, we report a novel synonymous variant within exon 3 of the SF3B4 gene in a family with three members affected by Nager syndrome. 27966544 2017
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 GeneticVariation disease BEFREE Whole gene deletions of SF3B4 have also been suggested to be the cause of Nager syndrome in SF3B4 point mutation negative patients. 26679067 2016
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 GeneticVariation disease BEFREE This phenotype can be rescued by injection of wild-type human SF3B4 mRNA but not by mRNAs carrying mutations that cause Nager syndrome. 26874011 2016
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 GeneticVariation disease BEFREE We identified heterozygosity for SF3B4 mutations in Rodriguez syndrome, confirming that the phenotype is a dominant disorder that is allelic with Nager syndrome. 27622494 2016
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 Biomarker disease BEFREE 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. 25865758 2015
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 GeneticVariation disease BEFREE SF3B4 is the major gene responsible for autosomal dominant Nager syndrome. 24003905 2014
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND SF3B4 is the major gene responsible for autosomal dominant Nager syndrome. 24003905 2014
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 GeneticVariation disease BEFREE Since SF3B4 mutations have been recently associated with Nager syndrome, this suggests that at least some cases of Rodriguez syndrome are either allelic to or represent unusually severe manifestations of Nager syndrome. 24715698 2014
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 Biomarker disease BEFREE In our study, we performed exome sequencing in two and Sanger sequencing of SF3B4 in further ten previously unreported patients with the clinical diagnosis of Nager syndrome, including one familial case. 23568615 2013
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 GeneticVariation disease BEFREE We conclude that, the presence of consanguinity and absence of mutation in SF3B4, provides evidence in support of a recessive form of Nager syndrome. 23913624 2013
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 GermlineCausalMutation disease ORPHANET These results suggest that most cases of Nager syndrome are caused by haploinsufficiency of SF3B4. 22541558 2012
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 Biomarker disease BEFREE These results suggest that most cases of Nager syndrome are caused by haploinsufficiency of SF3B4. 22541558 2012
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 CausalMutation disease CLINVAR These results suggest that most cases of Nager syndrome are caused by haploinsufficiency of SF3B4. 22541558 2012
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND These results suggest that most cases of Nager syndrome are caused by haploinsufficiency of SF3B4. 22541558 2012
CUI: C0265245
Disease: Nager syndrome
Nager syndrome 		0.800 Biomarker disease CTD_human