Summary
L1CAM is a member of the immunoglobulin gene superfamily of neural adhesion molecule. Abnormality of the L1CAM gene is associated with X-linked recessive form of congenital hydrocephalus (HSAS; hydrocephalus due to congenital stenosis of aqueduct of Sylvius) and some allelic disorders. Four new patients with congenital hydrocephalus consistent with the X-linked type were described. One of them had a novel mutation in the L1CAM gene.
Article PDF
References
Coucke P, Vits L, Van Camp G, Serville F, Lyonnet S, Kenwrick S, Rosenthal A, Wehnert M, Munnich A, Willems PJ (1994): Identification of a 5′ splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family. Hum Mol Genet3: 671–673
Fransen E, Schrander-Stumpel C, Vits L, Coucke P, Van Camp G, Willems PJ (1994): X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene. Hum Mol Genet3: 2255–2256
Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ (1995): CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L 1. Eur J Hum Genet3: 273–284
Hlavin ML, Lemmon V (1991): Molecular structure and functional testing of human L1CAM: an interspecies comparison. Genomics11: 416–423
Jouet M, Rosenthal A, MacFarlane J, Kenwrick S, Donnai D (1993): A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS). Nature Genet4: 331
Jouet M, Rosenthal A, Armstrong G, MacFarlane J, Stevenson R, Paterson J, Metzenberg A, Ionasescu V, Temple K, Kenwrick S (1994): X-linked spastic paraplegia (SPG1),MASA syndrome and X-linked hydrocephalus result from mutations in the L 1 gene. Nature Genet7: 402–407
Jouet M, Moncla A, Paterson J, McKeown C, Fryer A, Carpenter N, Holmberg E, Wadelius C, Kenwrick S (1995): New domains of neural cell-adhesion molecule L11 implicated in X-linked hydrocephalus and MASA syndrome. Am J Hum Genet56: 1304–1314
Jouet M, Kenwrick S (1995): Gene analysis of L11 neural cell adhesion molecule in prenatal diagnosis of hydrocephalus. Lancet345: 161–162
Kenwrick S, Jouet M, Donnai D (1996): X-linked hydrocephalus and MASA syndrome. J Med Genet33: 59–65
Landrieu P, Ninane J, Ferriere G, Lyon G (1979): Aqueductal stenosis in X-linked hydrocephalus: a secondary phenomenon? Dev Med Child Neurol21: 637–652
Rosenthal A, Jouet M, Kenwrick S (1992): Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. Nature Genet2: 107–112
Ruiz JC, Cuppens H, Legius E, Fryns JP, Glover T, Marynen P, Cassiman JJ (1995): Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. J Med Genet32: 549–552
Schrander-Stumpel C, Howeler C, Jones M, Sommer A, Stevens C, Tinschert S, Israel J, Fryns JP (1995): Spectrum of X linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1). Clinical review with six additional families. Am J Med Genet57: 107–116
Strain L, Gosden CM, Brock DJH, Bonthron DT (1994): Genetic heterogeneity in X-linked hydrocephalus linkage to markers within Xq27.3. Am J Hum Genet54: 236–243
Takechi T, Tohyama J, Kurashige T, Maruta K, Uyemura K, Ohi T, Matsukura S, Sakuragawa N (1996): A deletion of five nucleotides in the L1CAM gene in a Japanese family with X-linked hydrocephalus. Hum Genet97: 353–356
Van Camp G, Vits L, Coucke P, Lyonnet S, Schrander-Stumpel C, Darby J, Holden J, Munnich A, Willems PJ (1993): A duplication in the L1CAM gene associated with X-linked hydrocephalus. Nature Genet3: 421–425
Vits L, Van Camp G, Coucke P, Fransen E, De Boulle K, Reyniers E, Korn B, Posuka A, Wilson G, Schrander-Stumpel C, Winter RM, Willems PJ (1994): MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. Nature Genet7: 408–413
Willems PJ, Dijkstra I, Van der Auwera BJ, Vits L, Couke P, Raeymaekers P, Van Broeckhoven C, Consalez GG, Freeman SB, Warren ST, Brouwer OF, Brunner HG, Renier WO, Van Elsen AF, Dumon JE (1990): Assignment of X-linked hydrocephalus to Xq28 by linkage analysis. Genomics8: 367–370
Yamazaki M, Arita N, Hiraga S, Izumoto S, Morimoto K, Nakatani S, Fujitani K, Sato N, Hayakawa T (1995): A clinical and neuroradiological study of X-linked hydrocephalus in Japan. J Neurosurg83: 50–55
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Okamoto, N., Wada, Y., Kawabata, H. et al. A novel mutation in LICAM gene in a Japanese patient with x-linked hydrocephalus. Jap J Human Genet 41, 431–437 (1996). https://doi.org/10.1007/BF01876336
Received:
Revised:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF01876336
Key Words
This article is cited by
-
Heterozygous FOXJ1 Mutations Cause Incomplete Ependymal Cell Differentiation and Communicating Hydrocephalus
Cellular and Molecular Neurobiology (2023)