ESPE2022 Poster Category 1 Fat, Metabolism and Obesity (73 abstracts)
Background and Objective: Homozygous mutations in the “Centrosomal Protein-19 (CEP19)” gene are extremely rare causes of early-onset severe monogenic obesity. We, herein, report three siblings with CEP19 mutation.
Case Presentation and Method: The index case was a 12-years-old female who presented with severe obesity (BMI:62.7kg/m2), metabolic syndrome and diabetic ketoacidosis. Her non-identical twin female siblings(Case-2&3) also had early-onset severe obesity, metabolic syndrome and diabetes. Besides, Case-2 had situs invs abdominalis, polysplenia, lumbar vertebral fusion and right-left disorientation. Whole-exome sequencing and subsequent Sanger sequencing was performed. A homozygous nonsense (c.169C>T, p.Arg57*) mutation was detected in exon-3 of CEP19 in the index case and her affected twin sisters. One unaffected sister and unaffected parents were heterozygous for the variant. This variant is predicted to cause a stop codon at the amino acid sequence 61, leading to a truncated CEP19 protein.
Conclusion: Our study expands the phenotypical manifestations and mutation database of CEP19 variants. Findings in one of our patients reaffirm its role in the assembly and function of both motile and immotile cilia.
15 Sep 2022 - 17 Sep 2022