Exome sequencing revealed PMM2 gene mutations in a French-Canadian family with congenital atrophy of the cerebellum

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• 作者：Anne Noreau ; Philippe Beauchemin ; Alexandre Dionne-Laporte…
• 关键词：Cerebellar ; Ataxia ; Whole exome sequencing ; PMM2 ; Mutations
• 刊名：Cerebellum & Ataxias
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：1
• 期：1
• 全文大小：371KB
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• 作者单位：Anne Noreau (24) (25)
  Philippe Beauchemin (26)
  Alexandre Dionne-Laporte (24)
  Patrick A Dion (24) (25) (27)
  Guy A Rouleau (24) (27)
  Nicolas Dupr茅 (26)
  FORGE Canada
  
  24. Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada
  25. Department of Pathology and Cellular Biology, Universit茅 de Montr茅al, Montreal, Quebec, Canada
  26. Faculty of Medicine of Laval University and the Department of Neurological Sciences of the Centre Hopitalier, Universitaire de Qu茅bec, 1401, 18th Street, Quebec, QC, G1J 1Z4, Canada
  27. Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada
  
• 刊物类别：Neurobiology; Neurosciences; Neurology; Neurosurgery;
• 刊物主题：Neurobiology; Neurosciences; Neurology; Neurosurgery;
• 出版者：BioMed Central
• ISSN：2053-8871

文摘

Two affected and one unaffected siblings from a French-Canadian family were evaluated in our neurogenetic clinic. The oldest brother had intentional and postural hand tremor while his youngest sister presented mild ataxia, a similar hand tremor and global developmental delay. Brain MRIs of the two affected family members further revealed a significant cerebellar atrophy. For this study we conducted a whole exome sequencing (WES) investigation using genomic DNA prepared from the affected brother and sister, alongside DNA prepared from their unaffected mother, and identified two mutations previously reported to cause a rare disorder known as Congenital Disorder of Glycosylation, type Ia (CDG1A) (OMIM #212065). This study emphasizes how the diagnosis of patients presenting a mild tremor phenotype associated with cerebellar atrophy may benefit from WES in establishing genetic defects associated with their conditions. Keywords Cerebellar Ataxia Whole exome sequencing PMM2 Mutations