Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1: A New Case Report and Review of the Literature

Privitera, Flavia; Pagano, Stefano; Meossi, Camilla; Battini, Roberta; Bartolini, Emanuele; Montanaro, Domenico; Santorelli, Filippo Maria

doi:10.3390/genes15050548

Open AccessArticle

Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1: A New Case Report and Review of the Literature

by

Flavia Privitera

^1,2

,

Stefano Pagano

^1,2,3,

Camilla Meossi

^1,2,

Roberta Battini

^1,4,

Emanuele Bartolini

^1,5,

Domenico Montanaro

⁶ and

Filippo Maria Santorelli

^1,2,*

¹

Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Via dei Giacinti 2, 56128 Pisa, Italy

²

Molecular Medicine, IRCCS Fondazione Stella Maris, Via dei Giacinti 2, 56128 Pisa, Italy

³

Medical Genetics, Residency Program, Federico II University, Via S. Pansini 5, 80131 Naples, Italy

⁴

Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy

⁵

Tuscany PhD Program in Neurosciences, 50139 Florence, Italy

⁶

U.O.S. Dipartimentale e Servizio Autonomo di Risonanza Magnetica, IRCCS Stella Maris Foundation, 56128 Pisa, Italy

^*

Author to whom correspondence should be addressed.

Genes 2024, 15(5), 548; https://doi.org/10.3390/genes15050548

Submission received: 6 April 2024 / Revised: 22 April 2024 / Accepted: 23 April 2024 / Published: 25 April 2024

(This article belongs to the Section Genetic Diagnosis)

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Abstract

SATB1 (MIM #602075) is a relatively new gene reported only in recent years in association with neurodevelopmental disorders characterized by variable facial dysmorphisms, global developmental delay, poor or absent speech, altered electroencephalogram (EEG), and brain abnormalities on imaging. To date about thirty variants in forty-four patients/children have been described, with a heterogeneous spectrum of clinical manifestations. In the present study, we describe a new patient affected by mild intellectual disability, speech disorder, and non-specific abnormalities on EEG and neuroimaging. Family studies identified a new de novo frameshift variant c.1818delG (p.(Gln606Hisfs*101)) in SATB1. To better define genotype–phenotype associations in the different types of reported SATB1 variants, we reviewed clinical data from our patient and from the literature and compared manifestations (epileptic activity, EEG abnormalities and abnormal brain imaging) due to missense variants versus those attributable to loss-of-function/premature termination variants. Our analyses showed that the latter variants are associated with less severe, non-specific clinical features when compared with the more severe phenotypes due to missense variants. These findings provide new insights into SATB1-related disorders.

Keywords: SATB1; WES; phenotype–genotype association; missense variants; premature termination variants

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MDPI and ACS Style

Privitera, F.; Pagano, S.; Meossi, C.; Battini, R.; Bartolini, E.; Montanaro, D.; Santorelli, F.M. Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1: A New Case Report and Review of the Literature. Genes 2024, 15, 548. https://doi.org/10.3390/genes15050548

AMA Style

Privitera F, Pagano S, Meossi C, Battini R, Bartolini E, Montanaro D, Santorelli FM. Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1: A New Case Report and Review of the Literature. Genes. 2024; 15(5):548. https://doi.org/10.3390/genes15050548

Chicago/Turabian Style

Privitera, Flavia, Stefano Pagano, Camilla Meossi, Roberta Battini, Emanuele Bartolini, Domenico Montanaro, and Filippo Maria Santorelli. 2024. "Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1: A New Case Report and Review of the Literature" Genes 15, no. 5: 548. https://doi.org/10.3390/genes15050548

APA Style

Privitera, F., Pagano, S., Meossi, C., Battini, R., Bartolini, E., Montanaro, D., & Santorelli, F. M. (2024). Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1: A New Case Report and Review of the Literature. Genes, 15(5), 548. https://doi.org/10.3390/genes15050548

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Non-Specific Epileptic Activity, EEG, and Brain Imaging in Loss of Function Variants in SATB1: A New Case Report and Review of the Literature

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