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A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla)  Livia Pisciotta, MD, Cecilia.

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Presentation on theme: "A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla)  Livia Pisciotta, MD, Cecilia."— Presentation transcript:

1 A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla)  Livia Pisciotta, MD, Cecilia Vitali, PhD, Elda Favari, PhD, Paola Fossa, PhD, Maria Pia Adorni, PhD, Daniela Leone, PhD, Nathan Artom, MD, Raffaele Fresa, LabTech, Laura Calabresi, PhD, Sebastiano Calandra, MD, Stefano Bertolini, MD  Journal of Clinical Lipidology  Volume 9, Issue 6, Pages (November 2015) DOI: /j.jacl Copyright © 2015 National Lipid Association Terms and Conditions

2 Figure 1 Pedigree of the proband's kindred. The proband is indicated by an arrow. Half-shaded symbol indicates the carriers of the apoA-I mutation. Journal of Clinical Lipidology 2015 9, DOI: ( /j.jacl ) Copyright © 2015 National Lipid Association Terms and Conditions

3 Figure 2 Partial sequence of exon 4 of APOA1 gene. The top panel shows the nucleotide sequence in the proband; the deleted nucleotides are boxed. The lower panels show the corresponding amino acid sequence of wild type and mutant apoA-I, respectively. The stretch of the 19 novel amino acids (in italics) of the C-terminal end of the truncated protein is shown. Journal of Clinical Lipidology 2015 9, DOI: ( /j.jacl ) Copyright © 2015 National Lipid Association Terms and Conditions

4 Figure 3 Immunoblot of plasma apoA-I. The plasma of mutation carriers contains the wild type apoA-I (28 kDa) and a 20.8 kDa band consistent with the size of the predicted truncated protein. Lane 1: proband; lane 2: proband's mother; lane 3: proband's maternal grandfather; lane 4: proband's maternal uncle. Journal of Clinical Lipidology 2015 9, DOI: ( /j.jacl ) Copyright © 2015 National Lipid Association Terms and Conditions

5 Figure 4 (A) Molecular model of wild type apoA-I. The contact preference areas involving residues 159 to 177 is depicted (H-bonding and hydrophobic regions are colored in cyan and purple, respectively). The protein backbone is shown by ribbon (residues 1–158 in blue, 178–243 in yellow). (B) Molecular model of truncated apoA-I. The contact preference areas of the truncated apoA-I (residues 159–177) are depicted. H-bonding and hydrophobic regions are colored in cyan and purple, respectively. The protein backbone is shown by ribbon, colored in magenta. Journal of Clinical Lipidology 2015 9, DOI: ( /j.jacl ) Copyright © 2015 National Lipid Association Terms and Conditions

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