Document Detail

DNA-based prenatal diagnosis of plectin-deficient epidermolysis bullosa simplex associated with pyloric atresia.
MedLine Citation:
PMID:  21413955     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Mutations in the plectin gene (PLEC) generally lead to epidermolysis bullosa simplex (EBS) associated with muscular dystrophy. It has been recently demonstrated that PLEC mutations can also cause a different clinical subtype, EBS associated with pyloric atresia (EBS-PA), which shows early lethality. Prenatal diagnosis (PND) of EBS-PA using mutation screening of PLEC has not been described.
OBJECTIVE: This study aimed to perform DNA-based PND for an EBS-PA family.
MATERIALS AND METHODS: The EBS-PA proband was compound-heterozygous for a paternal c.1350G>A splice-site mutation and a maternal p.Q305X nonsense mutation. Genomic DNA was obtained from amniocytes taken from an at-risk fetus of the proband's family. Direct sequencing and restriction enzyme digestion of polymerase chain reaction products from the genomic DNA were performed.
RESULTS: Mutational analysis showed that the fetus harbored both pathogenic mutations, suggesting that the fetus was a compound-heterozygote and therefore affected with EBS-PA. The skin sample obtained by autopsy from the abortus confirmed the absence of plectin expression at the dermal-epidermal junction.
CONCLUSIONS: This is the first successful DNA-based PND for an EBA-PA family.
Hideki Nakamura; Ken Natsuga; Wataru Nishie; James R McMillan; Hiroyuki Nakamura; Daisuke Sawamura; Masashi Akiyama; Hiroshi Shimizu
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  International journal of dermatology     Volume:  50     ISSN:  1365-4632     ISO Abbreviation:  Int. J. Dermatol.     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-03-18     Completed Date:  2011-07-19     Revised Date:  2011-10-27    
Medline Journal Info:
Nlm Unique ID:  0243704     Medline TA:  Int J Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  439-42     Citation Subset:  IM    
Copyright Information:
© 2011 The International Society of Dermatology.
Department of Dermatology, Hokkaido University Graduate School of Medicine, Sapporo, Japan.
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MeSH Terms
Abortion, Therapeutic
Amniocentesis / methods*
Bacterial Proteins
Ectodermal Dysplasia / genetics
Epidermolysis Bullosa Simplex / genetics
Family Health
Fetal Diseases / genetics*
Genetic Testing / methods*
Plectin / genetics*
Reg. No./Substance:
0/Bacterial Proteins; 0/HetF protein, Nostoc punctiforme; 0/PLEC protein, human; 0/Plectin

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