Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria

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• 作者：Stéphanie Valence (1) (2)
  Karine Poirier (1) (2)
  Nicolas Lebrun (1) (2)
  Yoann Saillour (1) (2)
  Pascale Sonigo (3)
  Bettina Bessières (4) (5)
  Tania Attié-Bitach (4) (5)
  Alexandra Benachi (6)
  Cécile Masson (7)
  Ferechté Encha-Razavi (4) (5)
  Jamel Chelly (1) (2)
  Nadia Bahi-Buisson (1) (2) (5)
  
• 关键词：Polymicrogyria ; Kinesin binding protein ; Prenatal diagnosis ; KBP gene
• 刊名：neurogenetics
• 出版年：2013
• 出版时间：November 2013
• 年：2013
• 卷：14
• 期：3-4
• 页码：215-224
• 全文大小：
• 作者单位：Stéphanie Valence (1) (2)
  Karine Poirier (1) (2)
  Nicolas Lebrun (1) (2)
  Yoann Saillour (1) (2)
  Pascale Sonigo (3)
  Bettina Bessières (4) (5)
  Tania Attié-Bitach (4) (5)
  Alexandra Benachi (6)
  Cécile Masson (7)
  Ferechté Encha-Razavi (4) (5)
  Jamel Chelly (1) (2)
  Nadia Bahi-Buisson (1) (2) (5)
  
  1. Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), Paris, France
  2. Inserm, U1016, Paris, France
  3. Service de Radiologie Pédiatrique, Assistance Publique-H?pitaux de Paris (AP-HP), h?pital Necker-Enfants Malades, Paris, France
  4. Département de Génétique, AP-HP, h?pital Necker-Enfants Malades, Paris, France
  5. Institut Imagine, Université Paris Descartes - Sorbonne Paris Cités, Paris, France
  6. Maternité et Gynécologie Obstetrique, AP-HP, h?pital Antoine Béclère, Paris, France
  7. Bioinformatics plateform, Université Paris Descartes, Paris, France
  
• ISSN：1364-6753

文摘

Polymicrogyria (PMG) is a clinically heterogeneous malformation of cortical development, characterized by a loss of the normal gyral pattern that is replaced by many small and infolded gyri separated by shallow sulci that are partly fused in their depths. Causes of PMG are heterogeneous and include acquired and genetic causes. There are more than 100 syndromes possibly associated with PMG but mutations in specific genes such as SRPX2, GPR56, TUBB2B, TUBB3, NHEJ1, TUBA1A, TUBA8, and WDR62 have been reported only in a minority of patients.