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 9 条

[1] Severe intrauterine growth retardation, aged facial appearance, and congenital heart disease in a newborn with Johanson-Blizzard syndrome [J].

Alpay, F ;

Gül, D ;

Lenk, MK ;

Ogur, G .

PEDIATRIC CARDIOLOGY, 2000, 21 (04) :389-390

[2] Impaired neurogenesis and cardiovascular development in mice lacking the E3 ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway [J].

An, JY ;

Seo, JW ;

Tasaki, T ;

Lee, MJ ;

Varshavsky, A ;

Kwon, YT .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2006, 103 (16) :6212-6217

[3]

GORLIN RJ, 2001, SYNDROMES HEAD NECK, P1010

[4] A SYNDROME OF CONGENITAL HYPOPLASIA OF THE ALAE NASI, SITUS INVERSUS, AND SEVERE HYPOPROTEINEMIA IN 2 SIBLINGS [J].

HELIN, I ;

JODAL, U .

JOURNAL OF PEDIATRICS, 1981, 99 (06) :932-934

[5] The mouse and human genes encoding the recognition component of the N-end rule pathway [J].

Kwon, YT ;

Reiss, Y ;

Fried, VA ;

Hershko, A ;

Yoon, JK ;

Gonda, DK ;

Sangan, P ;

Copeland, NG ;

Jenkins, NA ;

Varshavsky, A .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (14) :7898-7903

[6] Construction and analysis of mouse strains lacking the ubiquitin ligase UBR1 (E3α) of the N-end rule pathway [J].

Kwon, YT ;

Xia, ZX ;

Davydov, IV ;

Lecker, SH ;

Varshavsky, A .

MOLECULAR AND CELLULAR BIOLOGY, 2001, 21 (23) :8007-8021

[7]

Steinbach WJ, 2000, J PEDIATR ENDOCR MET, V13, P1633

[8] Genetic basis and pancreatic biology of Johanson-Blizzard syndrome [J].

Zenker, M ;

Mayerle, J ;

Reis, A ;

Lerch, MM .

ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA, 2006, 35 (02) :243-+

[9] Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome) [J].

Zenker, M ;

Mayerle, J ;

Lerch, MM ;

Tagariello, A ;

Zerres, K ;

Durie, PR ;

Beier, M ;

Hülskamp, G ;

Guzman, C ;

Rehder, H ;

Beemer, FA ;

Hamel, B ;

Vanlieferinghen, P ;

Gershoni-Baruch, R ;

Vieira, MW ;

Dumic, M ;

Auslender, R ;

Gil-da-Silva-Lopes, VL ;

Steinlicht, S ;

Rauh, M ;

Shalev, SA ;

Thiel, C ;

Winterpacht, A ;

Kwon, YT ;

Varshavsky, A ;

Reis, A .

NATURE GENETICS, 2005, 37 (12) :1345-1350

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