RGD Reference Report - Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy. - Rat Genome Database

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Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.

Authors: Elting, Mariet  Kariminejad, Ariana  de Sonnaville, Marie-Louise  Ottenkamp, Jaap  Bauhuber, Susanne  Bozorgmehr, Bita  Zenker, Martin  Cobben, Jan M 
Citation: Elting M, etal., Am J Med Genet A. 2008 Dec 1;146A(23):3058-61. doi: 10.1002/ajmg.a.32566.
RGD ID: 155882462
Pubmed: PMID:19006206   (View Abstract at PubMed)
DOI: DOI:10.1002/ajmg.a.32566   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
cardiovascular system disease  IAGP 155882462DNA:splice-site mutation:cds:IVS26+5G>A (human)RGD 
cardiovascular system disease  ISOUBR1 (Homo sapiens)155882462; 155882462DNA:splice-site mutation:cds:IVS26+5G>A (human)RGD 
Johanson-Blizzard syndrome  IAGP 155882462DNA:splice-site mutation:cds:IVS26+5G>A (human)RGD 
Johanson-Blizzard syndrome  ISOUBR1 (Homo sapiens)155882462; 155882462DNA:splice-site mutation:cds:IVS26+5G>A (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Congenital hypothyroidism  IAGP 155882462DNA:splice-site mutation:cds:IVS26+5G>A (human)RGD 
Exocrine pancreatic insufficiency  IAGP 155882462DNA:splice-site mutation:cds:IVS26+5G>A (human)RGD 
Sensorineural hearing impairment  IAGP 155882462DNA:splice-site mutation:cds:IVS26+5G>A (human)RGD 
Underdeveloped nasal alae  IAGP 155882462DNA:splice-site mutation:cds:IVS26+5G>A (human)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Ubr1  (ubiquitin protein ligase E3 component n-recognin 1)

Genes (Mus musculus)
Ubr1  (ubiquitin protein ligase E3 component n-recognin 1)

Genes (Homo sapiens)
UBR1  (ubiquitin protein ligase E3 component n-recognin 1)


Additional Information