Journal article
Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion
Journal of human genetics, Vol.48(12), pp.622-628
2003
DOI: 10.1007/s10038-003-0089-0
PMID: 14618417
Abstract
Three Japanese families with Van der Woude syndrome (VWS) were screened for mutations in the interferon regulatory factor 6 gene (IRF6) by sequencing its entire coding region. Two novel missense mutations, R45Q in exon 3 and P396S in exon 9, were identified in families 1 and 2, respectively. In family 3, no causative base change was found by the sequencing analysis, but a deletion involving exons 4-9 was suggested by multiplex PCR analysis. To confirm the deletion and to determine its 5'- and 3'-boundaries, we amplified a DNA fragment containing a heterozygous polymorphic site in exon 2 by using a 5'-upstream forward PCR primer and eight different reverse primers located 3'-downstream of exon 2. The amplified product was subjected to nested PCR to generate a DNA fragment containing the polymorphic site. When a reverse primer located within the deletion was used for the first PCR amplification, only the nondeletion allele was detected after the second PCR. Repeated analyses with eight different reverse primers allowed us to map the boundaries of the deletion, and subsequently a heterozygous 17,162-bp deletion involving exons 4-9 was identified. Since IRF6 mutations in a significant portion of VWS patients remain undetected by conventional sequencing analysis, it may be important to search for a large deletion in those patients. Our simple methods to identify deletions and to determine the boundaries of a deletion would facilitate the identification of such patients.
Details
- Title: Subtitle
- Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion
- Creators
- Shuji Kayano - Department of Plastic and Reconstructive Surgery, Tohoku University School of Medicine, Sendai, JapanShigeo Kure - Department of Medical Genetics, Tohoku University School of Medicine, Seiryomachi, Aoba-ku, Sendai 980-8574, Japan. skure@mail.cc.tohoku.ac.jpYoichi Suzuki - Department of Medical Genetics, Tohoku University School of Medicine, Seiryomachi, Aoba-ku, Sendai 980-8574, JapanKiyoshi Kanno - Department of Plastic and Reconstructive Surgery, Tohoku University School of Medicine, Sendai, JapanYoko Aoki - Department of Medical Genetics, Tohoku University School of Medicine, Seiryomachi, Aoba-ku, Sendai 980-8574, JapanShinji Kondo - Department of Pediatrics, The University of Iowa, Iowa City, Iowa, 52242, USABrian C Schutte - Department of Pediatrics, The University of Iowa, Iowa City, Iowa, 52242, USAJeffrey C Murray - Department of Pediatrics, The University of Iowa, Iowa City, Iowa, 52242, USAAtsushi Yamada - Department of Plastic and Reconstructive Surgery, Tohoku University School of Medicine, Sendai, JapanYoichi Matsubara - Department of Medical Genetics, Tohoku University School of Medicine, Seiryomachi, Aoba-ku, Sendai 980-8574, Japan
- Resource Type
- Journal article
- Publication Details
- Journal of human genetics, Vol.48(12), pp.622-628
- DOI
- 10.1007/s10038-003-0089-0
- PMID
- 14618417
- NLM abbreviation
- J Hum Genet
- ISSN
- 1434-5161
- eISSN
- 1435-232X
- Publisher
- England
- Language
- English
- Date published
- 2003
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025455502771
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