Rett-like features and cortical visual impairment in a Japanese patient with HECW2 mutation
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DOI: 10.1016/j.braindev.2017.12.015
Abstract: Numerous genetic syndromes that include intellectual disability (ID) have been reported. Recently, HECW2 mutations were detected in patients with ID and growth development disorders. Four de novo missense mutations have been reported. Here, we report… read more here.
Keywords: cortical visual; visual impairment; rett like; mutation ... See more keywords
A neuronal enhancer network upstream of MEF2C is compromised in patients with Rett-like characteristics
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DOI: 10.1093/hmg/ddy393
Abstract: Abstract Mutations in myocyte enhancer factor 2C (MEF2C), an important transcription factor in neurodevelopment, are associated with a Rett‐like syndrome. Structural variants (SVs) upstream of MEF2C, which do not disrupt the gene itself, have also… read more here.
Keywords: mef2c; network; rett like; neuronal enhancer ... See more keywords
Current developments in the genetics of Rett and Rett-like syndrome
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DOI: 10.1097/yco.0000000000000389
Abstract: Purpose of review This article reviews the current molecular genetic studies, which investigate the genetic causes of Rett syndrome or Rett-like phenotypes without a MECP2 mutation. Recent findings As next generation sequencing becomes broadly available,… read more here.
Keywords: rett like; genetics; rett syndrome; developments genetics ... See more keywords