These authors contributed equally to the work.
High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus–Merzbacher disease
Article first published online: 20 FEB 2012
© 2012 John Wiley & Sons A/S. Published by Blackwell Publishing Ltd
Volume 83, Issue 1, pages 66–72, January 2013
How to Cite
Bilir, B., Yapici, Z., Yalcinkaya, C., Baris, I., Carvalho, C., Bartnik, M., Ozes, B., Eraksoy, M., Lupski, J. and Battaloglu, E. (2013), High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus–Merzbacher disease. Clinical Genetics, 83: 66–72. doi: 10.1111/j.1399-0004.2012.01846.x
- Issue published online: 17 DEC 2012
- Article first published online: 20 FEB 2012
- Accepted manuscript online: 27 JAN 2012 07:15AM EST
- Received 24 May 2011, revised and accepted for publication 23 January 2012
|cge1846-sup-0001-FigureS1.pdf||application/acrobat||72K||Fig. S1. Pedigrees of three consanguineous PMD families. (a) A large family with three branches of multiconsanguinity (F1, F2, F3), (b) F17, and (c) F21 with the parents from the same village. The genotypes were determined for the individuals marked with asterisk (*). Filled symbols with arrow indicate the probands. Carriers are indicated as symbols with black dots.|
|cge1846-sup-0002-FigureS2.pdf||application/acrobat||443K||Fig. S2. Representative results of the quantitative real-time PCR for the ratio distribution of healthy control individuals, patients with PLP1 duplication versus patients without duplication. The ratio of the copy number of the target PLP1 gene to that of the reference PRX gene defines the relative quantity of PLP1 gene in each individual. The mean ratio was 0.44 ± 0.34 for the male and 0.97 ± 0.23 for the female control groups. + denotes the cases with PLP1 duplication, with p < 0.001 by Student's t-test as compared with the mean value for male controls. *stands for the female patients.|
|cge1846-sup-0003-FigureS3.pdf||application/acrobat||255K||Fig. S3. Chromatograms showing partial sequencing profiles of the sense and anti-sense strands of the PLP1 gene in hemizygous patients F15.3 (a) and F16.3 (b), and those of the GJA12/GJC2 gene in patients F1.3 (c), F7.3 (d), F12.3 (e), F17.4 (f), and F23.3 (g). The mutations are shown with arrows above the sequence chromatograms. Protein alignments of the regions encompassing the altered amino acids are shown. Arrows indicate the positions of the altered amino acids. These amino acids are conserved in all of the species compared.|
|cge1846-sup-0004-AppendixS1.pdf||application/acrobat||40K||Appendix S1. The primer sequences used for screening of the promoter and the only exon of GJA12/GJC2 gene were designed as follows.|
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