{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:46:43Z","timestamp":1787014003136,"version":"build-2736575974"},"reference-count":37,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,12,15]],"date-time":"2024-12-15T00:00:00Z","timestamp":1734220800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Endocrinology"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>\n                      Poirier\u2010Bienvenu neurodevelopmental syndrome (POBINDS) is a rare neurodevelopmental syndrome, resulting from germline heterozygous\n                      <jats:italic>CSNKB2<\/jats:italic>\n                      pathogenic variants. The main presentations are severe epilepsy, delayed psychomotor development, and\/or profound intellectual disability. More recently,\n                      <jats:italic>CSNK2B<\/jats:italic>\n                      pathogenic variants have been reported in patients with mild intellectual disability and no history of epileptic symptoms. Short stature is present in 66% of patients, in half of these cases due to proven growth hormone deficiency.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Whole genome sequencing (WGS) was performed through a French genomic program for a patient with isolated growth hormone deficiency after negative next generation sequencing (NGS) results. NGS panel analysis of\n                      <jats:italic>CSNK2B<\/jats:italic>\n                      and genes involved in isolated growth hormone deficiency (IGHD) was performed in 44 patients from the Genhypopit network (\n                      <jats:italic>n<\/jats:italic>\n                      \u2009=\u20092144) with growth hormone deficiency (GHD) and intellectual disability (ID) or epilepsy and in a convenience cohort of 68 GHD patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We present the first case of POBINDS presenting mainly as growth delay due to GHD. Genome analysis revealed a de novo pathogenic variant in the translation initiation codon of\n                      <jats:italic>CSNK2B<\/jats:italic>\n                      (c.1\u2009A\u2009&gt;\u2009G, p.(Met1?)). The patient had mild intellectual disability and subsequent analysis of the patient's clinical history revealed that he had had febrile convulsions, compatible with POBINDS. No\n                      <jats:italic>CSNK2B<\/jats:italic>\n                      pathogenic variants were identified among the 44 selected patients with GHD and ID or epilepsy, or in a convenience cohort of 68 patients with GHD.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Although rare, pediatricians should be aware that POIBNDS syndrome may present as IGHD with mild ID.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/cen.15174","type":"journal-article","created":{"date-parts":[[2024,12,16]],"date-time":"2024-12-16T01:35:24Z","timestamp":1734312924000},"page":"421-426","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["<i>CSNK2B<\/i>\n                    Mutation: A Rare Cause of IGHD"],"prefix":"10.1111","volume":"102","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-5550-9636","authenticated-orcid":false,"given":"Karine","family":"Aouchiche","sequence":"first","affiliation":[{"name":"Multidisciplinary Pediatric Department Aix Marseille Univ, APHM, INSERM, MMG, UMR 1251, La Timone Children's Hospital Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pauline","family":"Romanet","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, APHM, INSERM, MMG, UMR 1251, La Timone University Hospital, Laboratory of Molecular Biology GEnOP\u00e9 Marseille France"},{"name":"GCS AURAGEN Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Barlier","sequence":"additional","affiliation":[{"name":"Aix Marseille Univ, APHM, INSERM, MMG, UMR 1251, La Timone University Hospital, Laboratory of Molecular Biology GEnOP\u00e9 Marseille France"},{"name":"Department of Endocrinology Aix Marseille 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