title: Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.
abstract: We report on two apparently unrelated girls with Johanson-Blizzard syndrome (JBS), in both children caused by a homozygous IVS26+5G>A mutation in the UBR1 gene. In both cases the parents are consanguineous and more sibs are affected. The somewhat mild phenotype (with no or slight mental retardation) in these two JBS families might be explained by residual UBR1 activity. One case has a dilated cardiomyopathy, a symptom only rarely reported in JBS, but of important clinical significance.
authors.affiliation: Department of Pediatrics, Emma Children's Hospital, AMC Amsterdam, The Netherlands.
authors.forename: Mariet
authors.initials: M
authors.lastname: Elting
authors.forename: Ariana
authors.initials: A
authors.lastname: Kariminejad
authors.forename: Marie-Louise
authors.initials: ML
authors.lastname: de Sonnaville
authors.forename: Jaap
authors.initials: J
authors.lastname: Ottenkamp
authors.forename: Susanne
authors.initials: S
authors.lastname: Bauhuber
authors.forename: Bita
authors.initials: B
authors.lastname: Bozorgmehr
authors.forename: Martin
authors.initials: M
authors.lastname: Zenker
authors.forename: Jan M
authors.initials: JM
authors.lastname: Cobben
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D013577:Syndrome; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: C113474:UBR1 protein, human; D044767:Ubiquitin-Protein Ligases