Additional file 3: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

Le résumé fourni par la source

Novel POLH splice mutation in non-related XP-variant patients. A: Pedigrees of the 4 XP-variant families coming from Northern Spain and mutated in the POLH gene. The arrows indicate the four patients studied by NGS. Patients #11, 12 and 13 were homozygous for the splice mutation c.764 + 1G > A whereas patient #10 was compound heterozygous for mutations c.764 + 1G > A and c.1445C > A (p.Ser482*). B: RT-PCR using RNA from patients #10 and 11, with forward primer in exon 5 and reverse primer in exon 8, showed a single 365 bp band in normal cells and two bands at323 bp and 261 bp in the homozygous patient #11. The diagram indicates partial deletion (42 bp) of exon 6 in the type I splice variant and deletion of the entire 104 bp of exon 6 in the type-II splice variant. The normal transcript was the major transcript in the heterozygous patient #10, with a fain band corresponding to the type I splice variant. (PPTX 92 kb)

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