Neurodevelopmental disorder with microcephaly, ataxia, and seizures syndrome: expansion of the clinical spectrum. Issue 4 (14th July 2022)

• Record Type: Journal Article
• Authors: Karaer, Kadri; Karaer, Derya; Yüksel, Zafer; Işikay, Sedat
• Is Part Of: Clinical dysmorphology. Volume 31:Issue 4(2022)
• Page Start: 167
• Page End: 173
• Publication Date: 2022-07-14
• Subjects: NEDMAS -- novel mutation -- SARS1 gene; Abnormalities, Human -- Periodicals; Genetic disorders -- Periodicals; Abnormalities -- periodicals; Abnormalities, Human; Periodicals; 616.042
• DOI: 10.1097/MCD.0000000000000426
• Languages: English
• ISSNs: 0962-8827

Abstract

Abstract : 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.