13023_2016_408_MOESM4_ESM.xlsx (46.68 kB)
Additional file 4: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing
dataset
posted on 2016-03-22, 05:00 authored by Nadège Calmels, Géraldine Greff, Cathy Obringer, Nadine Kempf, Claire Gasnier, Julien Tarabeux, Marguerite Miguet, Geneviève Baujat, Didier Bessis, Patricia Bretones, Anne Cavau, Béatrice Digeon, Martine Doco-Fenzy, Bérénice Doray, François Feillet, Jesus Gardeazabal, Blanca Gener, Sophie Julia, Isabel Llano-Rivas, Artur Mazur, Caroline Michot, Florence Renaldo-Robin, Massimiliano Rossi, Pascal Sabouraud, Boris Keren, Christel Depienne, Jean Muller, Jean-Louis Mandel, Vincent LaugelPOLH founder mutation in Northern Spain. Haplotype analysis was performed on the 6 XP-variant patients coming from Northern Spain with mutations in the POLH gene (chr6:43,543,878-43,588,260[hg19]). Despite a genome wide study using the Illumina HumanOmniExpress-24 SNP chip, the table focuses on the SNP localized in the vicinity of the POLH gene on chromosome 6 (between 42,000,000 and 44,000,000). Patient #11, patient #12 and her sister and patient #13 and his sister were homozygous for the c.764 + 1G > A mutation. Patient #10 was compound heterozygous c.[764 + 1G > A(;)1445C > A]. Parents of patient #13 were heterozygous carriers of the splice mutation. The five homozygous patients share a region of homozygosity (975 kb) including the POLH gene (from rs3800291 at position 42,751,457 to rs866236 at position 43,726,956). The compound heterozygous patient #10 and the carrier parents have at least one allele in common with the founder haplotype all along the 975 kb region. (XLSX 46 kb)
