Document Detail

Novel double-deletion mutations of the OFD1 gene creating multiple novel transcripts.
MedLine Citation:
PMID:  15221448     Owner:  NLM     Status:  MEDLINE    
Oral-facial-digital syndrome type 1 (OFD1) is an X-linked dominant disease characterized by malformations of the face, oral cavity, and digits. Thus far, 18 small mutations in the OFD1 gene have been reported. Here, we describe, in one Japanese sporadic female OFD1 case, the presence of a novel pair of deletion mutations: a 4,094-bp deletion encompassing exon 7 to intron 9, and a 14-bp deletion in intron 9, both of which are present in her paternal X-chromosome. The first deletion, the largest known to affect OFD1, was revealed by identifying four novel transcripts that all lacked exons 7-9. The most likely cause of the double deletion is two unequal recombinations between homologous sequences. Identification of the 4,094-bp deletion was made possible only by analyzing OFD1 mRNA, underscoring the utility of mRNA analysis in the mutational analysis of OFD1.
Takeshi Morisawa; Mariko Yagi; Agus Surono; Naoki Yokoyama; Makoto Ohmori; Hiroto Terashi; Masafumi Matsuo
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2004-06-02
Journal Detail:
Title:  Human genetics     Volume:  115     ISSN:  0340-6717     ISO Abbreviation:  Hum. Genet.     Publication Date:  2004 Jul 
Date Detail:
Created Date:  2004-06-28     Completed Date:  2004-09-08     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7613873     Medline TA:  Hum Genet     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  97-103     Citation Subset:  IM    
Department of Pediatrics, Kobe University Graduate School of Medicine, 7-5-1 Kusunokicho, Chuo, 650-0017, Kobe, Japan.
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MeSH Terms
Base Sequence
DNA Mutational Analysis / methods
Molecular Sequence Data
Orofaciodigital Syndromes / genetics*
RNA, Messenger / analysis*
Sequence Deletion*
Reg. No./Substance:
0/RNA, Messenger

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