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 20 条

[1] Johanson-Blizzard's Syndrome with a Novel UBR1 Mutation
Demir, Damla
Demirkol, Yasemin Kendir
Gerenli, Nelgin
Karabay, Ezgi Aktas
JOURNAL OF PEDIATRIC GENETICS, 2022, 11 (02) : 147 - 150
[2] Two de novo UBR1 variants in trans as a cause of Johanson-Blizzard syndrome
Strych, Lukas
Zavoral, Tomas
Komrskova, Pavla
Vanecek, Tomas
Subrt, Ivan
BIOMEDICAL PAPERS-OLOMOUC, 2025,
[3] Clinical manifestations of Johanson-Blizzard syndrome in a patient with nucleotide variants in the UBR1 gene
Jojkic-Pavkov, Danijela
Tosic, Jela
Kavecan, Ivana
Plazacic, Milica
VOJNOSANITETSKI PREGLED, 2023, 80 (10) : 885 - 889
[4] Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing
Naim Alkhouri
Barbara Kaplan
Marsha Kay
Amy Shealy
Carol Crowe
Susanne Bauhuber
Martin Zenker
World Journal of Gastroenterology, 2008, 14 (44) : 6863 - 6866
[5] Novel UBR1 gene mutation in a patient with typical phenotype of Johanson-Blizzard syndrome
Fallahi, Gholam Hossein
Sabbaghian, Mozhgan
Khalili, Manijeh
Parvaneh, Nima
Zenker, Martin
Rezaei, Nima
EUROPEAN JOURNAL OF PEDIATRICS, 2011, 170 (02) : 233 - 235
[6] Johanson-Blizzard syndrome with mild phenotypic features confirmed by UBR1 gene testing
Alkhouri, Naim
Kaplan, Barbara
Kay, Marsha
Shealy, Amy
Crowe, Carol
Bauhuber, Susanne
Zenker, Martin
WORLD JOURNAL OF GASTROENTEROLOGY, 2008, 14 (44) : 6863 - 6866
[7] Johanson-Blizzard syndrome: a report of gender-discordant twins with a novel UBR1 mutation
Quaio, C. R.
Koda, Y. K.
Bertola, D. R.
Sukalo, M.
Zenker, M.
Kim, C. A.
GENETICS AND MOLECULAR RESEARCH, 2014, 13 (02) : 4159 - 4164
[8] Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome
Hwang, Cheol-Sang
Sukalo, Maja
Batygin, Olga
Addor, Marie-Claude
Brunner, Han
Perez Aytes, Antonio
Mayerle, Julia
Song, Hyun Kyu
Varshavsky, Alexander
Zenker, Martin
PLOS ONE, 2011, 6 (09):
[9] Severe forms of Johanson-Blizzard syndrome caused by two novel compound heterozygous variants in UBR1: Clinical manifestations, imaging findings and molecular genetics
Liu, Shu
Wang, Zhiqing
Jiang, Jianhui
Luo, Xianqiong
Hong, Qingshan
Zhang, Ye
OuYang, Haimei
Wei, Sisi
Liang, Jinqun
Chen, Nuan
Zeng, Weihong
PANCREATOLOGY, 2020, 20 (03) : 562 - 568
[10] Two novel UBR1 gene mutations in a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation
Atik, Tahir
Karakoyun, Miray
Sukalo, Maja
Zenker, Martin
Ozkinay, Ferda
Aydogdu, Sema
GENE, 2015, 570 (01) : 153 - 155

← 1 2 →