Potential conflicts of interest: The authors report no conflict of interest.
Novel splice-site mutation in ATP8B1 results in atypical Progressive Familial Intrahepatic Cholestasis Type 1
Version of Record online: 26 FEB 2013
© 2012 Journal of Gastroenterology and Hepatology Foundation and Wiley Publishing Asia Pty Ltd
Journal of Gastroenterology and Hepatology
Volume 28, Issue 3, pages 560–564, March 2013
How to Cite
Copeland, E., Renault, N., Renault, M., Dyack, S., Bulman, D. E., Bedard, K., Otley, A., Magee, F., Acott, P. and Greer, W. L. (2013), Novel splice-site mutation in ATP8B1 results in atypical Progressive Familial Intrahepatic Cholestasis Type 1. Journal of Gastroenterology and Hepatology, 28: 560–564. doi: 10.1111/j.1440-1746.2012.07290.x
- Issue online: 26 FEB 2013
- Version of Record online: 26 FEB 2013
- Accepted manuscript online: 4 OCT 2012 06:29AM EST
- Manuscript Accepted: 11 SEP 2012
- Capital District Health Authority
- IWK Health Centre
Figure S1 Region of Linkage Disequilibrium on Chromosome 18q 21-22 The two sibships with affected individuals from this kindred are shown. Haplotypes from SNP_A1953510 (at base number 47148674) to SNP_A2220855 (at base number 55217162) are indicated below each individual respectively. SNP variants are designated as A versus B. M indicates “matched region of homozygosity” that spans from SNP_A-2115933 (on chromosome 18 at base number 47223514) to SNP_A1822788 (on chromosome 18 at base number 55071538). Lower case genotype designations indicate a haplotype likely originating from an ancestral chromosome.
Figure S2 Sequence chromatograms illustrating a four nucleotide deletion in ATP8B1 gene from the patient cDNA. A fragment spanning from exon 15 to exon 17 of ATP8B1 was amplified from cDNA derived from control and patient EBV transformed B-lymphocytes. The resulting fragment was sequenced and aligned to the reference sequence, NM_005603.4. The section containing the deletion is shown here. The control sequence (middle) aligned to the reference sequence (top), while the sequence obtained from the patient sample (bottom) showed a four nucleotide deletion at the start of exon 16. 254 × 190 mm (96 × 96 DPI).
Table S1 PCR primers for sequencing ATP8B1.
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