ESPE Abstracts (2022) 95 P1-79

ESPE2022 Poster Category 1 Fat, Metabolism and Obesity (73 abstracts)

Severe early-onset obesity and diabetic ketoacidosis due to a novel homozygous c.169C>T p.Arg57* mutation in CEP19 gene

Atilla Cayir 1 , Ayberk Turkyilmaz 2 , Hannah Rabenstein 3 , Fadime Guven 4 , Yuksel Sumeyra Karagoz 5 , Martin Wabitsch 6 & Huseyin Demirbilek 7

1Department of Paediatric Endocrinology, Erzurum Training and Research Hospital, Erzurum, Turkey; 2Department of Medical Genetics, Erzurum Training and Research Hospital, Erzurum, Turkey; 3Institute of Human Genetics University Hospital of Ulm, Ulm, Germany; 4Department of Radiology, Ataturk University Faculty of Medicine, Erzurum, Turkey; 5Department of Pediatric Psychiatry, Erzurum Training and Research Hospital, Erzurum, Turkey; 6Division of Paediatric Endocrinology and Diabetes, Department of Paediatric and Adolescent Medicine, Center for Rare Endocrine Diseases, Ulm University Hospital, Ulm, Germany; 7Department of Paediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Turkey

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.

Volume 95

60th Annual ESPE (ESPE 2022)

Rome, Italy
15 Sep 2022 - 17 Sep 2022

European Society for Paediatric Endocrinology 

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