Prenatal diagnosis in a family with X-linked hydrocephalus |
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Authors: | Maria Panayi David Gokhale Sahar Mansour Rob Elles |
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Institution: | 1. National Genetics Reference Laboratory, Regional Genetics Service, St Mary's Hospital, Manchester, M13 0JH, UK;2. Regional Molecular Genetics Laboratory, Liverpool Women's Hospital, Liverpool, Crown Street, Liverpool, L8 7SS, UK;3. SW Thames Regional Genetics Service, St George's Hospital Medical School, Tooting, London, SW17 0RE, UK |
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Abstract: | The neural cell adhesion molecule L1 is a transmembrane glycoprotein belonging to the immunoglobulin superfamily of cell adhesion molecules (CAMs). Its expression is essential during embryonic development of the nervous system and it is involved in cognitive function and memory. Mutations in the L1CAM gene are responsible for four related L1 disorders; X-linked hydrocephalus/HSAS (H ydrocephalus as a result of S tenosis of the A queduct of S ylvius), MASA (M ental retardation, A phasia, S huffling gait, and A dducted thumbs) syndrome, X-linked complicated spastic paraplegia type I (SPG1) and X-linked A genesis of the C orpus C allosum (ACC). These four disorders represent a clinical spectrum that varies both between and within families. The main clinical features of this spectrum are C orpus callosum hypoplasia, mental R etardation, A dducted thumbs, S pastic paraplegia and H ydrocephalus (CRASH syndrome). Since there is no biochemically assayed disease marker, molecular analysis of the L1CAM gene is the only means of confirming a clinical diagnosis. Most L1CAM mutations reported to date are point mutations (missense, nonsense, splice site) and only a few patients with larger rearrangements have been documented. We have characterised a rare intragenic deletion of the L1CAM gene in a sample of DNA extracted from a chorionic villus biopsy (CVB) performed at 12 weeks' gestation. Copyright © 2005 John Wiley & Sons, Ltd. |
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Keywords: | prenatal diagnosis L1CAM sequence analysis |
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