A novel L1CAM mutation with L1 spectrum disorders |
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| Authors: | Fatma Silan Ismail Ozdemir Willy Lissens |
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| Institution: | 1. Medical Biology and Genetic Department, Abant Izzet Baysal University, Duzce School of Medicine, Duzce, Turkey;2. Obstetric and Gynecology Department, Abant Izzet Baysal University, Duzce School of Medicine, Duzce, Turkey;3. Center for Medical Genetics, University Hospital, AZ, VUB Laarbeeklaan, Brussels, Belgium |
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| Abstract: | X-linked hydrocephalus, HSAS (hydrocephalus due to stenosis of aqueduct of Sylvius), MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs), and CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndromes are allelic disorders. X-linked hydrocephalus and associated phenotypes are due to mutations in the L1CAM gene, which has been identified as a coding neural cell adhesion molecule. We report two cases of L1 spectrum disorders within the same family. The first case was diagnosed by ultrasonographic examination prenatally and the second case was diagnosed postnatally. Both patients and their mothers carry a novel mutation of the L1CAM gene. In this family, nine X-linked hydrocephalus and five female carriers were found in three generations, and molecular genetic analysis was performed to detect the asymptomatic carriers. Copyright © 2005 John Wiley & Sons, Ltd. |
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| Keywords: | corpus callosum hypoplasia L1CAM L1 spectrum prenatal diagnosis X-linked hydrocephalus |
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