Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum
Autor: | Kadri Karaer, Derya Karaer, Zafer Yüksel, Sedat Işikay |
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Rok vydání: | 2022 |
Předmět: |
transcription factor RUNX1
genomic DNA cerebellum seizure thrombocytopenia Article mental disease whole exome sequencing Pathology and Forensic Medicine male Seizures Intellectual Disability Humans genetics human nuclear magnetic resonance imaging Genetics (clinical) child clinical article muscle hypotonia intellectual impairment missense mutation NEDMAS Syndrome General Medicine electroencephalogram Pedigree developmental delay karyotype female Neurodevelopmental Disorders Pediatrics Perinatology and Child Health head circumference Microcephaly Ataxia novel mutation Anatomy SARS1 gene |
Zdroj: | Clinical Dysmorphology. 31:167-173 |
ISSN: | 0962-8827 |
Popis: | Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) syndrome is a rare neurodevelopmental disorder characterized by moderate intellectual disability (ID), thin body habitus, microcephaly, seizures, ataxia, muscle weakness, and speech impairment. So far, only two families with NEDMAS have been reported. We report the clinical and molecular characteristics of three unrelated Turkish families with four NEDMAS patients. Whole-exome sequencing was used to search for the disease-causing variant. The main manifestations of the probands are severe developmental delay and ID, thin body habitus, and severe hypotonia. Brain imaging revealed bilateral cerebral and cerebellar diffuse atrophy. Sequencing results showed that both patients carried a novel missense variant c.1196C>T (p.Thr399Met) in the seryl-tRNA synthetase gene. Our findings help expand the variant spectrum of NEDMAS and provide additional information for diagnosing cases with atypical features. © 2022 Lippincott Williams and Wilkins. All rights reserved. |
Databáze: | OpenAIRE |
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