A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype.

Autor:	Pasca L; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Politano D; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Cavallini A; IRCCS Fondazione Don C. Gnocchi, Milan, Italy., Panzeri E; Laboratory of Molecular Biology, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy., Vigone MC; Pediatric Endocrinology Unit, San Raffaele Hospital, Milan, Italy., Baldoli C; Neuroradiology Unit, IRCCS San Raffaele Scientific Institute, Milan, Italy., Abbate M; Pediatric Endocrinology Unit, San Raffaele Hospital, Milan, Italy., Kullmann G; Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Marelli S; Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy., Pozzobon G; Pediatric Endocrinology Unit, San Raffaele Hospital, Milan, Italy., Vincenzi G; Pediatric Endocrinology Unit, San Raffaele Hospital, Milan, Italy., Nacinovich R; Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy., Bassi MT; Laboratory of Molecular Biology, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy., Romaniello R; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.
Jazyk:	angličtina
Zdroj:	Neuropediatrics [Neuropediatrics] 2024 Jun; Vol. 55 (3), pp. 191-195. Date of Electronic Publication: 2023 Jun 21.
DOI:	10.1055/a-2114-4387
Abstrakt:	Septo-optic dysplasia (SOD) syndrome is a rare congenital disorder characterized by a classic triad of optic nerve/chiasm hypoplasia, agenesis of septum pellucidum and corpus callosum, and hypoplasia of the hypothalamic-pituitary axis.Herein, we report the clinical case of 2-year-old boy presenting with psychomotor delay, nystagmus, congenital hypothyroidism, and a clinically relevant growth delay. The neuroradiological examination showed partial segmental agenesis of the corpus callosum, agenesis of the septum pellucidum, optic nerve hypoplasia, and a small pituitary gland with a small median pituitary stalk. A whole-exome sequencing analysis detected a novel heterozygous de novo variant c.1069_1070delAG in SON , predicted as likely pathogenic.To date, SON pathogenic variants have been described as responsible for Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome, a multisystemic neurodevelopmental disorder mainly characterized by intellectual disability, facial dysmorphisms, visual abnormalities, brain malformations, feeding difficulties, and growth delay. The herein described case is the first recognized clinic-radiological occurrence of SOD syndrome with hypothalamic-pituitary dysfunction in a patient carrying a SON gene variant, considered responsible of ZTTK syndrome, suggesting a possible relationship between SOD and SON gene alterations, never described so far, making the search for SON gene mutations advisable in patients with SOD. Competing Interests: None declared. (Thieme. All rights reserved.)
Databáze:	MEDLINE
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