Research Paper Volume 13, Issue 4 pp 4926—4945

Functional analysis of POLD1 p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacity

Clinical and molecular diagnosis. (A) Pictures showing patient’s clinical features at the age of 21: telangiectasia and skin scleroderma, minimal subcutaneous adipose tissue and reduced limb muscle mass. (B) MRI of the abdomen shows an over-representation of mesenteric fat. (C) Proband’ family pedigree. Full symbol indicates MDPL affected family members. (D) DNA analysis of the proband by NGS and Sanger sequencing revealed the recurrent heterozygous single amino acid in frame genetic deletion c.1812

Figure 1. Clinical and molecular diagnosis. (A) Pictures showing patient’s clinical features at the age of 21: telangiectasia and skin scleroderma, minimal subcutaneous adipose tissue and reduced limb muscle mass. (B) MRI of the abdomen shows an over-representation of mesenteric fat. (C) Proband’ family pedigree. Full symbol indicates MDPL affected family members. (D) DNA analysis of the proband by NGS and Sanger sequencing revealed the recurrent heterozygous single amino acid in frame genetic deletion c.1812_1814delCTC, p.Ser605del in POLD1 gene, segregating as an autosomal dominant variant.