The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule

American Journal of Medical Genetics

Volumn 64, Issue 1, 1996, Pages 73-77

  Fransen, Erik ^a   Vits, Lieve ^a   Van Camp, Guy ^a   Willems, Patrick J ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

hydrocephalus; L1; MASA; mental retardation; neural cell adhesion

Indexed keywords

NERVE CELL ADHESION MOLECULE;

ARTICLE; CORPUS CALLOSUM AGENESIS; GENE MUTATION; HUMAN; HYDROCEPHALUS; MENTAL RETARDATION MALFORMATION SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SPASTIC PARAPLEGIA; X CHROMOSOME LINKED DISORDER;

CELL ADHESION MOLECULES, NEURONAL; GENOTYPE; HUMANS; HYDROCEPHALUS; LEUKOCYTE L1 ANTIGEN COMPLEX; MEMBRANE GLYCOPROTEINS; MENTAL RETARDATION; MUTATION; PHENOTYPE; SYNDROME;

EID: 0029889132     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960712)64:1<73::AID-AJMG11>3.0.CO;2-P     Document Type: Article

References (22)

1. Bianchine JW, Lewis RC (1974): The MASA syndrome: A new hereditary mental retardation syndrome. Clin Genet 5:298-306.
2. Bickers DS, Adams RD (1949): Hereditary stenosis of the aqueduct of Sylvius as a cause of congenital hydrocephalus. Brain 72:246-262.
3. 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 Genet 3:671-673.
4. Forrest SM, Rosenthal A, Balnaves ME (1994): Mutation detection in X-linked hydrocephalus. Am J Hum Genet 55:A219.
5. 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 Genet 3:2255-2256.
6. Fransen E, Lemmon V, Van Camp G, Vits L, Coucke P, Willems PJ (1995): Crash syndrome: A clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. Eur J Hum Genet 3:273-284.
7. Fryns JP, Spaepen A, Cassiman J-J, Van den Berghe H: X-linked complicated spastic paraplegia, MASA syndrome and X-linked hydrocephaly due to congenital stenosis of the aqueduct of Sylvius: A variable expression of the same mutation at Xq28. J Med Genet 28:429-431.
8. Jouet M, Kenwrick S (1995): Gene analysis of L1 neural cell adhesion molecule in prenatal diagnosis of hydrocephalus. Lancet 345: 161-162.
9. Jouet M, Rosenthal A, Macfarlane J, Kenwrick S, Donnai D (1993): A missense mutation confirms the L1 defect in X-linked hydrocephalus. Nature Genet 4:331.
10. Jouet M, Rosenthal A, Armstrong G, Macfarlane J, Stevenson R, Paterson J, Matzenberg A, Ionanescu V, Temple K, Kenwrick S (1994): X-linked spastic paraplegia (SPG 1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nature Genet 7:402-407.
11. 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 L1 implicated in X-linked hydrocephalus and MASA syndrome. Am J Hum Genet 56:1304-1314.
12. Lemmon V, Farr KL, Lagenaur C (1989): L1-mediated axon outgrowth occurs via a homophilic binding mechanism. Neuron 2:1597-1603.
13. Rosenthal A, Jouet M, Kenwrick S (1992): Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. Nature Genet 2:107-112.
14. 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 Genet 32:549-552.
15. Schrander-Stumpel C, Legius E, Fryns JP, Cassiman JJ (1990): MASA syndrome: New clinical features and linkage analysis using DNA probes. J Med Genet 27:688-692.
16. Schrander-Stumpel C, Höweler C, Jones M, Sommer A, Stevens C, Tinschert S, Israel J, Fryns JP (1995): The spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families. Am J Med Genet 56:1-8.
17. 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 Genet 4:421-425.
18. Vits L, Van Camp G, Coucke P, Wilson G, Schrander-Stumpel C, Schwarz C, Willems PJ (1994): MASA syndrome is due to mutations in the L1CAM gene. Nature Genet 7:408-413.
19. Willems PJ, Dijkstra I, Van der Auwera BJ, Vits L, Coucke P, Raeymakers 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. Genomics 8:367-370.
20. Willems PJ, Vits L, Raeymakers P, Beuten J, Coucke C, Holden JJ, Van Broeckhoven C, Warren ST, Sagi M, Robinson D, Dennis N, Friedman KS, Magnay D, Lyonnet S, White BN, Wittwer BH, Aylsworth AS, Reicke S (1992): Further localization of X-linked hydrocephalus in the chromosomal region Xq28. Am J Hum Genet 51:307-315.
21. Williams EJ, Furness J, Walsh FS, Doherty P (1994): Activation of the FGF receptor underlies neurite outgrowth stimulated by L1, N-CAM and n-cadherin. Neuron 13:583-594.
22. Winter RM, Davies KE, Bell MV, Huson SM, Patterson MN (1989): MASA syndrome: Further clinical delineation and chromosomal location. Hum Genet 82:367-370.