Document Detail


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:  MEDLINE    
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.
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; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't     Date:  2012-05-23
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  20     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2012-11-15     Completed Date:  2013-04-29     Revised Date:  2013-12-06    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  1308-10     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Female
Fetal Development / genetics*
Fetal Diseases / diagnosis,  genetics
HELLP Syndrome / diagnosis,  genetics
Humans
Infant, Low Birth Weight
Infant, Newborn
Male
Mutation*
Pre-Eclampsia / diagnosis,  genetics
Pregnancy
Premature Birth
Trichothiodystrophy Syndromes / complications,  genetics*
Xeroderma Pigmentosum / diagnosis,  genetics*
Xeroderma Pigmentosum Group D Protein / genetics*
Chemical
Reg. No./Substance:
EC 3.6.4.12/Xeroderma Pigmentosum Group D Protein; EC 5.99.-/ERCC2 protein, human
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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