Three cases with L1 syndrome and two novel mutations in the L1CAM gene

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• 作者：Rosario Marín ; Miriam Ley-Martos ; Gema Gutiérrez…
• 关键词：L1 syndrome ; L1CAM ; X ; linked mental retardation ; Adducted thumbs ; X ; linked hydrocephalus
• 刊名：European Journal of Pediatrics
• 出版年：2015
• 出版时间：November 2015
• 年：2015
• 卷：174
• 期：11
• 页码：1541-1544
• 全文大小：204 KB
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• 作者单位：Rosario Marín (1)
  Miriam Ley-Martos (3)
  Gema Gutiérrez (4)
  Felicidad Rodríguez-Sánchez (5)
  Diego Arroyo (6)
  Francisco Mora-López (2)
  
  1. Clinical Genetics Unit, Hospital Universitario Puerta del Mar, Cádiz, Spain
  3. Department of Paediatrics, Hospital Universitario Puerta del Mar, Cádiz, Spain
  4. Department of Paediatrics, Hospital Universitario de Jerez, Jerez, Spain
  5. Division of Genetics, Human Anatomy Department, Universidad de Cádiz, Cádiz, Spain
  6. Progenie molecular S. L. Laboratory, Valencia, Spain
  2. Molecular Diagnosis Laboratory, Immunology Department, Hospital Universitario Puerta del Mar, Cádiz, Spain
  
• 刊物主题：Pediatrics;
• 出版者：Springer Berlin Heidelberg
• ISSN：1432-1076

文摘

Mutations in the L1CAM gene have been identified in the following various X-linked neurological disorders: congenital hydrocephalus; mental retardation, aphasia, shuffling gait, and adducted thumbs (MASA) syndrome; spastic paraplegia; and agenesis of the corpus callosum. These conditions are currently considered different phenotypes of a single entity known as L1 syndrome. We present three families with L1 syndrome. Sequencing of the L1CAM gene allowed the identification of the following mutations involved: a known splicing mutation (c.3531-12G>A) and two novel ones: a missense mutation (c.1754A>C; p.Asp585Ala) and a nonsense mutation (c.3478C>T; p.Gln1160Stop). The number of affected males and carrier females identified in a relatively small population suggests that L1 syndrome may be under-diagnosed.