| Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum. | |
| | |
MedLine Citation:
|
PMID: 22617342 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
|
The XPD(ERCC2) gene encodes a DNA helicase involved in DNA repair and transcription. Patients with mutations in XPD may have different autosomal recessive phenotypes including trichothiodystrophy (TTD) or xeroderma pigmentosum (XP). TTD patients have sulfur-deficient, brittle hair, short stature and developmental delay. In contrast, XP patients have freckle-like pigmentation and a greatly increased risk of sun-induced skin cancers. Mothers of TTD patients have been reported to have a high frequency of pregnancy and neonatal complications. We performed a molecular epidemiological study of 15 mothers of 17 TTD patients and 13 mothers of 17 XP patients, all with XPD mutations. We found that 94% (16/17) of the TTD pregnancies had pre-term delivery, pre-eclampsia, hemolysis, elevated liver enzymes and low platelets (HELLP) syndrome, prematurity or low birth weight. None of the 17 XP pregnancies had these complications (P<0.001). As mutations in XPD may have differential effects on DNA repair and transcription, these observations should provide insights into the role of XPD in human pregnancy and fetal development.European Journal of Human Genetics advance online publication, 23 May 2012; doi:10.1038/ejhg.2012.90. |
| | |
Authors:
|
Deborah Tamura; Sikandar G Khan; Melissa Merideth; John J Digiovanna; Margaret A Tucker; Alisa M Goldstein; Kyu-Seon Oh; Takahiro Ueda; Jennifer Boyle; Mansi Sarihan; Kenneth H Kraemer |
Publication Detail:
|
Type: JOURNAL ARTICLE Date: 2012-5-23 |
Journal Detail:
|
Title: European journal of human genetics : EJHG Volume: - ISSN: 1476-5438 ISO Abbreviation: - Publication Date: 2012 May |
Date Detail:
|
Created Date: 2012-5-23 Completed Date: - Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 9302235 Medline TA: Eur J Hum Genet Country: - |
Other Details:
|
Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
|
Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, MD, USA. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
|
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Plasma pentraxin-3 levels are associated with coronary plaque vulnerability and are decreased by sta...
Next Document: Phenotypic spectrum and genotype-phenotype correlations of NRXN1 exon deletions.