| CDKN1C mutations in HELLP/preeclamptic mothers of Beckwith-Wiedemann Syndrome (BWS) patients. | |
| | |
MedLine Citation:
|
PMID: 19386358 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
Preeclampsia is the development of new-onset hypertension with proteinuria after 20 weeks of gestation. HELLP syndrome (haemolysis, elevated liver enzymes, and low platelet count) is a severe form of preeclampsia with high rates of neonatal and maternal morbidity. In recent years, loss of function of cdkn1c (a tight-binding inhibitor of G1 cyclin/cyclin-dependent kinase complexes and a negative regulator of cell proliferation) has been observed in several mouse models of preeclampsia. In this paper, we report on three women with HELLP/preeclampsia who had children with Beckwith Wiedemann syndrome, a complex genetic disorder characterised, among other findings, by overgrowth, omphalocele and macroglossia. All three children displayed mutations in CDKN1C predicted to generate truncated proteins. Two of the mutations were maternally inherited while the third was de novo. This finding suggests a fetal contribution to the maternal disease. To the best of our knowledge this is the first report of CDKN1C mutations in children born to women with preeclampsia/HELLP syndrome, thus suggesting the involvement of an imprinted gene in the pathophysiology of preeclampsia. |
| | |
Authors:
|
V Romanelli; A Belinchón; A Campos-Barros; K E Heath; S García-Miñaur; V Martínez-Glez; R Palomo; G Mercado; R Gracia; P Lapunzina |
Related Documents
:
|
17980308 - Microcephaly syndromes. 20237638 - Bridging the gap between traditional chinese medicine and systems biology: the connecti... 10025808 - Genetic analysis of three patients with an 18p- syndrome and dystonia. 9207788 - Alagille syndrome is caused by mutations in human jagged1, which encodes a ligand for n... 612218 - The radiology corner. neonatal small left colon syndrome. 20842398 - Intracranial cavernoma and speckled lentiginous nevus: extending the spectrum of phakom... |
Publication Detail:
|
Type: Case Reports; Journal Article Date: 2009-04-21 |
Journal Detail:
|
Title: Placenta Volume: 30 ISSN: 1532-3102 ISO Abbreviation: Placenta Publication Date: 2009 Jun |
Date Detail:
|
Created Date: 2009-05-29 Completed Date: 2009-09-30 Revised Date: 2009-12-02 |
Medline Journal Info:
|
Nlm Unique ID: 8006349 Medline TA: Placenta Country: England |
Other Details:
|
Languages: eng Pagination: 551-4 Citation Subset: IM |
Affiliation:
|
INGEMM, Instituto de Genética Médica y Molecular, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Spain. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Base Sequence Beckwith-Wiedemann Syndrome / complications, genetics* Cyclin-Dependent Kinase Inhibitor p57 / genetics* DNA Mutational Analysis Female Genetic Predisposition to Disease HELLP Syndrome / etiology, genetics* Humans Infant, Newborn Mutation / physiology Pre-Eclampsia / etiology, genetics* Pregnancy |
| Chemical | |
Reg. No./Substance:
|
0/CDKN1C protein, human; 0/Cyclin-Dependent Kinase Inhibitor p57 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Resuscitation at birth and cognition at 8 years of age: a cohort study.
Next Document: Increase of intracellular Ca(2+) by adenine and uracil nucleotides in human midbrain-derived neurona...