A case of Björnstad syndrome caused by novel compound heterozygous mutations in the BCS1L gene
Corresponding Author
T. Yanagishita
Department of Dermatology, Aichi Medical University School of Medicine, Nagakute, Aichi, 480-1195 Japan
E-mail: [email protected]Search for more papers by this authorK. Sugiura
Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8500 Japan
Search for more papers by this authorY. Kawamoto
Department of Biomedical Sciences, College of Life and Health Sciences, Chubu University, Kasugai, Aichi, 487-8501 Japan
Search for more papers by this authorK. Ito
Department of Dermatology, Aichi Medical University School of Medicine, Nagakute, Aichi, 480-1195 Japan
Search for more papers by this authorY. Marubashi
Department of Dermatology, Aichi Medical University School of Medicine, Nagakute, Aichi, 480-1195 Japan
Search for more papers by this authorN. Taguchi
Department of Dermatology, Aichi Medical University School of Medicine, Nagakute, Aichi, 480-1195 Japan
Search for more papers by this authorM. Akiyama
Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8500 Japan
Search for more papers by this authorD. Watanabe
Department of Dermatology, Aichi Medical University School of Medicine, Nagakute, Aichi, 480-1195 Japan
Search for more papers by this authorCorresponding Author
T. Yanagishita
Department of Dermatology, Aichi Medical University School of Medicine, Nagakute, Aichi, 480-1195 Japan
E-mail: [email protected]Search for more papers by this authorK. Sugiura
Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8500 Japan
Search for more papers by this authorY. Kawamoto
Department of Biomedical Sciences, College of Life and Health Sciences, Chubu University, Kasugai, Aichi, 487-8501 Japan
Search for more papers by this authorK. Ito
Department of Dermatology, Aichi Medical University School of Medicine, Nagakute, Aichi, 480-1195 Japan
Search for more papers by this authorY. Marubashi
Department of Dermatology, Aichi Medical University School of Medicine, Nagakute, Aichi, 480-1195 Japan
Search for more papers by this authorN. Taguchi
Department of Dermatology, Aichi Medical University School of Medicine, Nagakute, Aichi, 480-1195 Japan
Search for more papers by this authorM. Akiyama
Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, 466-8500 Japan
Search for more papers by this authorD. Watanabe
Department of Dermatology, Aichi Medical University School of Medicine, Nagakute, Aichi, 480-1195 Japan
Search for more papers by this author
Supporting Information
| Filename | Description |
|---|---|
| bjd12736-sup-0001-SupportingInformation.docWord document, 31.5 KB | Supplementary information relating to Figure 2c in the main text. PCR-RFLP assay for the mutation in exon 7. PCR products from the control and the father were digested to 182-bp, 114-bp and 53-bp fragments, whereas PCR products from the patient and the mother were digested to 182-bp homogeneously and 167-bp (undivided to a 182-bp band), 114-bp and 53-bp fragments heterogeneously by NlaIII restriction enzyme at 37 °C for 1 h and run on 3% agarose gel. The c.1201_1202insA heterozygous mutation was inherited from the unaffected mother. The wild type or mutation c.916C>T in exon 6 did not create or destroy a restriction enzyme site. PCR-RFLP, polymerase chain reaction -restriction fragment length polymorphism.Supplementary information relating to Figure 2d in the main text. Sequences of primers and PCR conditions for mutant allele-specific PCR. Primer sequences (exon 6) were 5′-TCCACTGAAGGTGAGGCG-3′ (reverse) for the wild-type allele, 5′-TCCACTGAAGGTGAGGCA-3′ (reverse) for the mutant allele (3′ end mismatched) and 5′-TTTATGCTGGGCTATGACTACT-3′ (forward) for the common allele. The PCR product size was 95 bp. Primer sequences (exon 7) were 5′-CAGGGTCATTTTTATACAGCATG-3′ (reverse) for the wild-type allele, 5′-CAGGGTCATTTTTATACAGCATT-3′ (reverse) for the mutant allele and 5′-TGGGTGCTAGTGTGACCTGC-3′ (forward) for the common allele in exon 7. The PCR product size was 258 bp. PCR conditions were 94 °C for 2 min, followed by 35 cycles of 94 °C for 15 s, 60 °C for 30 s and 68 °C for 30 s, with a final extension step at 68 °C for 7 min. PCR products were electrophoresed in 3% agarose gels and visualized by GelRed™ (WAKO, Osaka, Japan) staining.Supplementary information relating to Figure 2f in the main text. Locations of mutations in our case on three-dimensional structures of BCS1L. Theoretical ribbon structures of the AAA domains from partial BCS1L analysed by the SWISS-MODEL homology modelling show locations of the p.R306C mutation (red) and p.M401NfsX4 mutation (pink) relative to magnesium (yellow) and ATP (purple). The residues 401–419 (deletion part: p.M401NfsX4) could not be matched by homology modelling. Therefore, only these sequences were matched with RuvB, which has the highest sequence homology to BCS1L and AAA family, and merged with BCS1L structures. |
Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
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