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Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum. | LitMetric

AI Article Synopsis

  • Mutations in the SZT2 gene were linked to early-onset epileptic encephalopathy in 2013, but clinical features remain largely unknown due to limited reports.
  • A new case study discusses a four-year-old girl with biallelic SZT2 mutations, presenting developmental delays, manageable seizures, and distinct physical traits like macrocephaly and dysmorphic facies.
  • The study suggests that SZT2 mutations can lead to a spectrum of symptoms ranging from severe epilepsy and developmental delay to mild intellectual disability, with a specific brain feature (short and thick corpus callosum) that may help identify these mutations clinically.

Article Abstract

Mutations in SZT2 were first reported in 2013 as a cause of early-onset epileptic encephalopathy. Because only five reports have been published to date, the clinical features associated with SZT2 remain unclear. We herein report an additional patient with biallelic mutations in SZT2. The proband, a four-year-old girl, showed developmental delay and seizures from two years of age. Her seizures were not intractable and readily controlled by valproate. She showed mildly dysmorphic facies with macrocephaly, high forehead, and hypertelorism, and also had pectus carinatum. An EEG showed epileptic discharges which rarely occurred. A brain MRI revealed a short and thick corpus callosum. Whole-exome sequencing detected compound heterozygous biallelic mutations (c.8596dup (p.Tyr2866Leufs42) and c.2930-17_2930-3delinsCTCGTG) in SZT2, both of which were novel and predicted to be truncating. This case suggested a broad phenotypic spectrum arises from SZT2 mutations, forming a continuum from epileptic encephalopathy and severe developmental delay to mild intellectual disability without epilepsy. The characteristic thick and short corpus callosum observed in 7/8 cases with epilepsy, including the proband, but not in three non-syndromic cases, appears to be specific, and thus useful for indicating the possibility of SZT2 mutations. This feature has the potential to make loss of SZT2 a clinically discernible disorder despite a wide clinical spectrum.

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Source
http://dx.doi.org/10.1016/j.braindev.2017.08.003DOI Listing

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