Linked Life Data

15054848

Source:http://linkedlifedata.com/resource/pubmed/id/15054848

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2004-3-31
pubmed:abstractText
Achondrogenesis type II is a lethal skeletal dysplasia caused by new dominant mutations within the type II collagen gene (COL2A1). Here we report on two pregnancies of a healthy, nonconsanguineous young couple. In the first pregnancy, severe micromelia and generalized edema were noted on ultrasound at 21 weeks' gestation. Clinical, radiological, and histological evaluation of the fetus after termination of the pregnancy showed typical findings of achondrogenesis type II. In the second pregnancy, fetal hygroma was noted at 11 weeks' gestation. Similar clinical, radiographic, and histologic findings were observed in the second fetus, suggesting the recurrence of achondrogenesis II within this family. Molecular analysis of genomic DNA extracted from amniotic cells of the second fetus revealed heterozygosity for a 1340G > A missense mutation (G316D) in the COL2A1 gene. This mutation was not found in the parents. Although, we could not evaluate the presence of this mutation in the first fetus, we strongly believe that our data are in favor of germline mosaicism as the most likely explanation for the recurrence of type II achondrogenesis in both sibs.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Apr
pubmed:issn
1552-4825
pubmed:author
pubmed:copyrightInfo
Copyright 2003 Wiley-Liss, Inc.
pubmed:issnType
Print
pubmed:day
30
pubmed:volume
126A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
308-12
pubmed:dateRevised
2008-5-21
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicism.
pubmed:affiliation
Centre de Génétique, Hôpital d'Enfants, Dijon, France. laurence.faivre@chu-dijon.fr
pubmed:publicationType
Journal Article, Case Reports