case_images: PMC7227336_01
case_images: "Total body" densitometry
case_images: 40842_2020_95_Fig1_HTML.jpg
case_images: PMC7227336_01_40842_2020_95_Fig1_HTML.jpg
case_images: Fig1
case_images: Impedancemetry showed 11.9% of body fat, and "Total body" densitometry demonstrated 7.8% of total fat (Fig. 1).
case_images: Genealogical tree
case_images: 40842_2020_95_Fig2_HTML.jpg
case_images: PMC7227336_01_40842_2020_95_Fig2_HTML.jpg
case_images: Fig2
case_images: (Fig. 2): a consanguineous marriage of grandparents (cousins) from the father's side, type 2 diabetes (father and grandmother from the father's side), breast cancer (father's sister), acute myocardial infarction (2 father's brothers), arterial hypertension (2 father's brothers), bicornuate uterus and endometriosis (sister), Crohn's disease (cousin from the father's side), arterial hypertension and obesity (mother), death in early childhood from the unknown reason (mother's brother and sister).
case_images: Electropherogram of DNA sequence of the CAVIN1 gene showing a homozygous variant c.631G < T resulting in the p.E211X mutation (codon is underlined) in the patient
case_images: 40842_2020_95_Fig3_HTML.jpg
case_images: PMC7227336_01_40842_2020_95_Fig3_HTML.jpg
case_images: Fig3
case_images: AKT2, CIDEC, LIPE, LMNB2, PIK3CA, PPP1R3A, POLD1, WRN, ZMPSTE24, BANF1) using a custom Ion Ampliseq panel and Personal Genome Machine (ThermoFisher Scientific, Waltham, MA, USA) semiconductor sequencer (Ion Torrent) was performed. A novel pathogenic homozygous variant c.631G < T: p.E211X was detected in the CAVIN1 gene (Fig. 3), confirming the diagnosis of CGL type 4.