case_images: PMC11298364_01
case_images: MEN1 variant analysis and menin protein structure in a colombian family. (A) Family pedigree across four generations highlighting the index patient (arrow). (B) Forward Sanger sequencing results for the proband (III-2), the proband's father (II-4), and the proband's daughter (IV-1), indicating the presence of the MEN1: c.698dup frameshift variant. (C) Three-dimensional crystal structure of human Menin (PDB ID: 3U84), frontal and back views. Domains are color-coded: N-terminus (light pink), Thumb (light violet), Palm (pale yellow), with regions affected by MEN1: c.698dup, p.Met233IlefsTer4 highlighted in gray. The critical Met233-to-isoleucine mutation within the compromised domains is marked in red, affecting the Palm and complete Finger domain, and illustrating the disruption's impact on MIPs interaction regions. MIPs, Menin interaction proteins. Created with .
case_images: fendo-15-1398436-g001.jpg
case_images: PMC11298364_01_fendo-15-1398436-g001.jpg
case_images: f1
case_images: This finding initiated CGS within the family ( Figure 1A ).
case_images: PMC11298364_02
case_images: Timeline of molecular and clinical manifestations of MEN1 in the colombian family with MEN1: c.698dup. *index case. Created with .
case_images: fendo-15-1398436-g002.jpg
case_images: PMC11298364_04_fendo-15-1398436-g002.jpg
case_images: f2
case_images: Patient IV-1 ( Figure 2 ), the daughter of the index case, was confirmed as a MEN1 variant carrier in December 2010 when she was only one year old.
case_images: PMC11298364_03
case_images: Timeline of molecular and clinical manifestations of MEN1 in the colombian family with MEN1: c.698dup. *index case. Created with .
case_images: fendo-15-1398436-g002.jpg
case_images: PMC11298364_04_fendo-15-1398436-g002.jpg
case_images: f2
case_images: Patient IV-1 ( Figure 2 ), the daughter of the index case, was confirmed as a MEN1 variant carrier in December 2010 when she was only one year old.
case_images: PMC11298364_04
case_images: Timeline of molecular and clinical manifestations of MEN1 in the colombian family with MEN1: c.698dup. *index case. Created with .
case_images: fendo-15-1398436-g002.jpg
case_images: PMC11298364_04_fendo-15-1398436-g002.jpg
case_images: f2
case_images: Patient IV-1 ( Figure 2 ), the daughter of the index case, was confirmed as a MEN1 variant carrier in December 2010 when she was only one year old.