Erschienen in:
01.11.2015 | Short Communication
Three cases with L1 syndrome and two novel mutations in the L1CAM gene
verfasst von:
Rosario Marín, Miriam Ley-Martos, Gema Gutiérrez, Felicidad Rodríguez-Sánchez, Diego Arroyo, Francisco Mora-López
Erschienen in:
European Journal of Pediatrics
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Ausgabe 11/2015
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Abstract
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.
Conclusion: L1 syndrome should be considered in the differential diagnosis of intellectual disability or mental retardation in children, especially when other signs such as hydrocephalus or adducted thumbs are present.
What is Known:
• Mutations in L1CAM have been identified in various X-linked recessive neurological disorders.
• L1CAM mutations are a cause of intellectual disability in children.
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What is New:
• L1 syndrome should be considered in the differential diagnosis of intellectual disability in children.
• We describe three families with L1 syndrome, and we report two previously undescribed L1CAM mutations.
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