Johanson-Blizzard Syndrome Caused by Identical UBR1 Mutations in Two Unrelated Girls, One With a Cardiomyopathy

被引：16

作者：

Elting, Mariet ^{[5
]}

Kariminejad, Ariana ^{[1
]}

de Sonnaville, Marie-Louise ^{[2
]}

Ottenkamp, Jaap ^{[3
]}

Bauhuber, Susanne

Bozorgmehr, Bita ^{[1
]}

Zenker, Martin ^{[4
]}

Cobben, Jan M. ^{[5
]}

机构：

[1] Kariminejad Najmabadi Pathol & Genet Ctr, Tehran, Iran

[2] OLVG Hosp, Dept Pediat, Amsterdam, Netherlands

[3] Ctr Anomalies Heart, Amsterdam, Netherlands

[4] Univ Erlangen Nurnberg, Inst Human Genet, D-8520 Erlangen, Germany

[5] Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, Dept Pediat, NL-1105 AZ Amsterdam, Netherlands

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2008年 / 146A卷 / 23期

关键词：

Johanson-Blizzard syndrome; pancreatic insufficiency; cardiomyopathy; UBR1; gene;

D O I：

10.1002/ajmg.a.32566

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (C) 2008 Wiley-Liss, Inc.

引用

页码：3058 / 3061

页数：4

共 11 条

[1] Johanson-Blizzard's Syndrome with a Novel UBR1 Mutation
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[2] Two de novo UBR1 variants in trans as a cause of Johanson-Blizzard syndrome
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[5] Clinical manifestations of Johanson-Blizzard syndrome in a patient with nucleotide variants in the UBR1 gene
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[7] Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics
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[8] Two novel UBR1 gene mutations in a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation
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[9] Novel UBR1 gene mutation in a patient with typical phenotype of Johanson–Blizzard syndrome
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[10] Glutamate metabolism disruption in Johanson-Blizzard syndrome: Insights from C. elegans ubr-1 model
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