Brief Report: MECP2 Mutations in People Without Rett Syndrome

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• 作者：Bernhard Suter (1)
  Diane Treadwell-Deering (2) (3)
  Huda Y. Zoghbi (1) (4) (5) (6) (7) (8) (9)
  Daniel G. Glaze (1) (6)
  Jeffrey L. Neul (1) (4) (5) (6) (8) (9)
  
• 关键词：Rett syndrome ; Autism ; Neurodevelopmental disorders ; MECP2 ; Epigenetics ; Neurogenetics
• 刊名：Journal of Autism and Developmental Disorders
• 出版年：2014
• 出版时间：March 2014
• 年：2014
• 卷：44
• 期：3
• 页码：703-711
• 全文大小：224 KB
• 作者单位：Bernhard Suter (1)
  Diane Treadwell-Deering (2) (3)
  Huda Y. Zoghbi (1) (4) (5) (6) (7) (8) (9)
  Daniel G. Glaze (1) (6)
  Jeffrey L. Neul (1) (4) (5) (6) (8) (9)
  
  1. Section of Child Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA
  2. Menninger Department of Psychiatry and Behavioral Sciences, Baylor College of Medicine, Houston, TX, USA
  3. Department of Pediatrics and the Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA
  4. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
  5. Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA
  6. Department of Neurology, Baylor College of Medicine, Houston, TX, USA
  7. Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX, USA
  8. Programs in Developmental Biology and Translational Biology and Molecular Medicine, Baylor College of Medicine, Houston, TX, USA
  9. Jan and Dan Duncan Neurological Research Institute, Texas Children’s Hospital, 1250 Moursund Street, Suite 1250.18, Houston, TX, 77030, USA
  
• ISSN：1573-3432

文摘

Mutations in Methyl-CpG-Binding protein 2 (MECP2) are commonly associated with the neurodevelopmental disorder Rett syndrome (RTT). However, some people with RTT do not have mutations in MECP2, and interestingly there have been people identified with MECP2 mutations that do not have the clinical features of RTT. In this report we present four people with neurodevelopmental abnormalities and clear RTT-disease causing MECP2 mutation but lacking the characteristic clinical features of RTT. One patient’s symptoms suggest an extension of the known spectrum of MECP2 associated phenotypes to include global developmental delay with obsessive compulsive disorder and attention deficit hyperactivity disorder. These results reemphasize that RTT should remain a clinical diagnosis, based on the recent consensus criteria.