Hypertrophic Cardiomyopathy With Cardiac Rupture and Tamponade Caused by Congenital Disorder of Glycosylation Type Ia

2012 ◽  
Vol 33 (5) ◽  
pp. 827-830 ◽  
Author(s):  
Laura I. Rudaks ◽  
Chad Andersen ◽  
T. Y. Khong ◽  
Andrew Kelly ◽  
Michael Fietz ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Congenital Disorder ◽  
Cardiac Rupture ◽  
Congenital Disorder Of Glycosylation ◽  
Type Ia

Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia

2002 ◽  
Vol 161 (10) ◽  
pp. 524-527 ◽  
Author(s):  
Thorsten Marquardt ◽  
Georg Hülskamp ◽  
Josef Gehrmann ◽  
Volker Debus ◽  
Erik Harms ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Myocardial Ischaemia ◽  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation ◽  
Type Ia

Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia

2009 ◽  
Vol 30 (5) ◽  
pp. 795-803 ◽  
Author(s):  
Ana I. Vega ◽  
Celia Pérez-Cerdá ◽  
Lourdes R. Desviat ◽  
Gert Matthijs ◽  
Magdalena Ugarte ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation ◽  
New Therapy ◽  
Splicing Mutations ◽  
Type Ia

Skeletal Dysplasia and Myelopathy in Congenital Disorder of Glycosylation Type IA

2006 ◽  
Vol 148 (1) ◽  
pp. 115-117 ◽  
Author(s):  
Steven M. Schade van Westrum ◽  
Paul J. Nederkoorn ◽  
P. Richard Schuurman ◽  
Tom Vulsma ◽  
Marinus Duran ◽  
...  
Keyword(s):  
Skeletal Dysplasia ◽  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation ◽  
Type Ia

scholarly journals Congenital disorder of glycosylation type Ia: a non-progressive encephalopathy associated with multisystemic involvement

2008 ◽  
Vol 66 (3a) ◽  
pp. 545-548 ◽  
Author(s):  
Jaime Moritz Brum ◽  
Isabela Maria Pinto de Oliveira Rizzo ◽  
Walquiria Domingues de Mello ◽  
Carlos Eduardo Speck-Martins
Keyword(s):  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation ◽  
Progressive Encephalopathy ◽  
Type Ia

scholarly journals In Vitro Fertilisation (IVF) Associated with Preimplantation Genetic Testing for Monogenic Diseases (PGT-M) in a Romanian Carrier Couple for Congenital Disorder of Glycosylation Type Ia (CDG-Ia): A Case Report

Genes ◽  
2020 ◽  
Vol 11 (6) ◽  
pp. 697
Author(s):  
Bogdan Doroftei ◽  
Loredana Nemtanu ◽  
Ovidiu-Dumitru Ilie ◽  
Gabriela Simionescu ◽  
Iuliu Ivanov ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Congenital Disorder ◽  
In Vitro Fertilisation ◽  
Comparative Genomic Hybridisation ◽  
Comparative Genomic ◽  
Preimplantation Genetic Testing ◽  
Congenital Disorder Of Glycosylation ◽  
Monogenic Diseases ◽  
Type Ia

Background: Congenital disorder of glycosylation (CDG) is a severe morphogenic and metabolic disorder that affects all of the systems of organs and is caused by a mutation of the gene PMM2, having a mortality rate of 20% during the first months of life. Results: Here we report the outcome of an in vitro fertilisation (IVF) cycle associated with preimplantation genetic testing for monogenic diseases (PGT-M) in a Romanian carrier couple for CDG type Ia with distinct mutations of the PMM2 gene. The embryonic biopsy was performed on day five of the blastocyst stage for six embryos. The amplification of the whole genome had been realized by using the PicoPLEX WGA kit. Using the Array Comparative Genomic Hybridisation technique, we detected both euploid and aneuploid embryos. The identification of the PMM2 mutation on exon 5 and exon 6 was performed for the euploid embryos through Sanger Sequencing with specific primers on ABI 3500. Of the six embryos tested, only three were euploid. One had compound heterozygosity and the remaining two were simple heterozygotes. Conclusion: PGT-M should be strongly considered for optimising embryo selection in partners with single-gene mutations in order to prevent transmission to the offspring.

Congenital Disorder of Glycosylation Type Ia: Searching for the Origin of Common Mutations inPMM2

2006 ◽  
Vol 71 (3) ◽  
pp. 348-353 ◽  
Author(s):  
D. Quelhas ◽  
R. Quental ◽  
L. Vilarinho ◽  
A. Amorim ◽  
L. Azevedo
Keyword(s):  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation ◽  
Type Ia

Novel nonsense mutation (R194X) in the PMM2 gene in a Japanese patient with congenital disorder of glycosylation type Ia

2003 ◽  
Vol 25 (7) ◽  
pp. 525-528 ◽  
Author(s):  
Hiroaki Ono ◽  
Nobuo Sakura ◽  
Katsuko Yamashita ◽  
Isao Yuasa ◽  
Kousaku Ohno
Keyword(s):  
Nonsense Mutation ◽  
Japanese Patient ◽  
Congenital Disorder ◽  
Congenital Disorder Of Glycosylation ◽  
Type Ia

scholarly journals Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

2007 ◽  
Vol 44 (4) ◽  
pp. 277-280 ◽  
Author(s):  
J M van de Kamp ◽  
D J Lefeber ◽  
G J G Ruijter ◽  
S J Steggerda ◽  
N S den Hollander ◽  
...  
Keyword(s):  
Congenital Disorder ◽  
Hydrops Fetalis ◽  
Congenital Disorder Of Glycosylation ◽  
Type Ia
Sign in / Sign up

Export Citation Format

Share Document