CSNK2B mutation: a rare cause of IGHD

Karine Aouchiche; Pauline Romanet; Anne Barlier; Thierry Brue; Auragen consertium; Morgane Pertuit; Rachel Reynaud; Alexandru Saveanu

P3-337

Prev Next

Section Contents Cite

ESPE Abstracts (2024) 98 P3-337

ESPE2024 Poster Category 3 Late Breaking (83 abstracts)

CSNK2B mutation: a rare cause of IGHD

Karine Aouchiche ^1,2 , Pauline Romanet ^1,2 , Anne Barlier ^1,2 , Thierry Brue ^1,2 , Auragen consertium ³ , Morgane Pertuit ¹ , Rachel Reynaud ^1,2 & Alexandru Saveanu ^1,2

Views

Author affiliations

¹AP-HM, Marseille, France. ²Aix Marseille Univ, Marseille, France. ³GCS Auragen, Lyon, France

Poirier-Bienvenue syndrome (POBINDS) is rare neurodevelopmental syndrome, resulting from germline hereteozygous CSNKB2 pathogenic variants. Patients mainly presented with severe epilepsy, delayed psychomotor development and/or profound intellectual disability. More recently patients with CSNK2B pathogenic variants and mild intellectual disability (ID), without any history of epileptic symptoms were reported. Short stature is present in 66% of patients, due in half to proven growth hormone deficiency (GHD). Here we present the first case of POBINDS patients for which the main feature of the disease was growth delay due to GHD. Genome analysis identified a CSNK2B de novo pathogenic variant in the translation initiation codon (c.1A>G, p.(Met1?)). Patient exhibited mild ID and antecedents of febrile seizures, confirming the diagnosis of POBINDS. Subsequently, we selected from the Genhypopit network, 44 patients with GHD and ID or epilepsy and looked for CSNK2B mutation. Then after, we conducted an analysis of 68 unselected patients with GHD. No pathogenic variants were identified. Although rare, we want to draw the attention to this rare syndrome that may be discovered in the context of growth retardation.