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

Mariet Elting; Ariana Kariminejad; Marie Louise De Sonnaville; Jaap Ottenkamp; Susanne Bauhuber; Bita Bozorgmehr; Martin Zenker; Jan M. Cobben

doi:https://doi.org/10.1002/ajmg.a.32566

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

Mariet Elting, Ariana Kariminejad, Marie Louise De Sonnaville, Jaap Ottenkamp, Susanne Bauhuber, Bita Bozorgmehr, Martin Zenker, Jan M. Cobben

Research output: Contribution to journal › Article › Academic › peer-review

17 Citations (Scopus)

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.

Original language	English
Pages (from-to)	3058-3061
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	146
Issue number	23
DOIs	https://doi.org/10.1002/ajmg.a.32566
Publication status	Published - 1 Dec 2008

Keywords

Cardiomyopathy
Johanson-Blizzard syndrome
Pancreatic insufficiency
UBR1 gene

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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.",

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T1 - Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy

AU - Elting, Mariet

AU - Kariminejad, Ariana

AU - De Sonnaville, Marie Louise

AU - Ottenkamp, Jaap

AU - Bauhuber, Susanne

AU - Bozorgmehr, Bita

AU - Zenker, Martin

AU - Cobben, Jan M.

PY - 2008/12/1

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AB - 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.

KW - Cardiomyopathy

KW - Johanson-Blizzard syndrome

KW - Pancreatic insufficiency

KW - UBR1 gene

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ER -

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

Abstract

Keywords

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