التفاصيل البيبلوغرافية
| العنوان: |
A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype. |
| المؤلفون: |
Pasca, Ludovica, Politano, Davide, Cavallini, Anna, Panzeri, Elena, Vigone, Maria Cristina, Baldoli, Cristina, Abbate, Marco, Kullmann, Gaia, Marelli, Susan, Pozzobon, Gabriella, Vincenzi, Gaia, Nacinovich, Renata, Bassi, Maria Teresa, Romaniello, Romina |
| المصدر: |
Neuropediatrics; Jun2024, Vol. 55 Issue 3, p191-195, 5p |
| مصطلحات موضوعية: |
AGENESIS of corpus callosum, DYSPLASIA, PHENOTYPES, GENETIC mutation, CONGENITAL hypothyroidism, CORPUS callosum |
| مستخلص: |
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. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
