Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis

Human Mutation

Volumn 12, Issue 4, 1998, Pages 259-266

  Saugier Veber, Pascale ^a,b   Martin, Cosette ^a,b   Le Meur, Nathalie ^a,b   Lyonnet, Stanislas ^c   Munnich, Arnold ^c   David, Albert ^d   Hénocq, Alain ^e   Héron, Delphine ^f   Jonveaux, Philippe ^g   Odent, Sylvie ^h   Manouvrier, Sylvie ⁱ   Moncla, Anne ^j   Morichon, Nicole ^c   Philip, Nicole ^j   Satge, Daniel ^k   Tosi, Mario ^l   Frebourg T ^a,b  

^a ROUEN UNIVERSITY HOSPITAL   (France)

^b IFRMP 23   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d HÔTEL DIEU   (France)

^e INSTITUT DE RECHERCHES INTERNATIONALES SERVIER   (France)

^f PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^g CHU NANCY BRABOIS   (France)

^h PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

ⁱ LILLE UNIVERSITY HOSPITAL   (France)

^j TIMONE HOSPITAL   (France)

^k Centre Hospitalier de Tulle   (France)

^l INSTITUT PASTEUR   (France)

more..

Author keywords

Fluorescence assisted mismatch analysis (FAMA); HSAS; L1CAM; MASA; Mental retardation; SPG1

Indexed keywords

APHASIA; ARTICLE; CELL ADHESION; EXON; FLUORESCENCE ANALYSIS; GAIT DISORDER; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; HUMAN CELL; MENTAL DEFICIENCY; PRIORITY JOURNAL; RELIABILITY; SPASTIC PARESIS;

APHASIA; BASE PAIR MISMATCH; DNA MUTATIONAL ANALYSIS; FEMALE; FLUORESCENCE; HUMANS; HYDROCEPHALUS; INTRONS; LEUKOCYTE L1 ANTIGEN COMPLEX; MALE; MEMBRANE GLYCOPROTEINS; MENTAL RETARDATION; MOVEMENT DISORDERS; MUTATION; NEURAL CELL ADHESION MOLECULES; NUCLEIC ACID HETERODUPLEXES; PARAPLEGIA; PEDIGREE; POLYMERASE CHAIN REACTION; SENSITIVITY AND SPECIFICITY; SYNDROME; THUMB; VARIATION (GENETICS);

EID: 7344229372     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)12:4<259::AID-HUMU7>3.0.CO;2-A     Document Type: Article

References (20)

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 Sylvuis as a cause of congenital hydrocephalus. Brain 72:246-262.
3. Chow CW, Halliday JL, Anderson RM, Danks DM, Fortune DW (1985) Congenital absence of pyramids and its significance in genetic diseases. Acta Neuropathol 65:313-317.
4. Claes S, Aguirre T, Simosa V, Bustos T, Lander R, Piras M, Legius E, Cassiman JJ, Raeymaekers P (1998) Hydrocephalus and spastic paraplegia result from a donor splice site mutation (2872+1GtoA) in the L1CAM gene in a Venezuelan pedigree. Hum Mutat Suppl 1:S240-S241.
5. Coucke P, Vits L, Van Camp G, Serville F, Lyonnet S, Kenwrick S, Rosenthal A, Wehnert M, Munnich A, Willems P (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.
6. Fransen E, Van Camp G, Vits L, Willems P (1997) L1-associated diseases: Clinical geneticists divide, molecular geneticists unite. Hum Mol Genet 6:1625-1632.
7. Fryns JP, Spaepen A, Cassiman JJ, Van den Berghe H (1991) X-linked complicated spastic paraplegia, MASA syndrome and X-linked hydrocephaly due to congenital stenosis of aqueduct of Sylvius: A variable expression of the same mutation at Xq28. J Med Genet 28:429-431.
8. Halliday J, Chow CW, Wallace D, Danks DM (1986) X-linked hydrocephalus. A survey of a 20 year period in Victoria, Australia. J Med Genet 23:23-31.
9. Hlavin ML, Lemmon V (1991) Molecular structure and functional testing of human L1CAM: An interspecies comparison. Genomics 11:416-423.
10. Jouet M, Rosenthal A, Armstrong G, McFarlane 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 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. Kenwrick S, Ionasescu V, Ionasescu G, Searby C, King A, Dubowitz M, Davies KE (1986) Linkage studies of X-linked recessive spastic paraplegia using DNA probes. Hum Genet 73:264-266.
13. Kenwrick S, Jouet M, Donnai D (1996) X-linked hydrocephalus and MASA syndrome. J Med Genet 33:59-65.
14. Okamoto N, Wada Y, Goto M (1997) Hydrocephalus and Hirschsprung disease in a patient with a mutation of L1CAM. J Med Genet 34:670-671.
15. Riccardi VM, Marcus ES (1978) Congenital hydrocephalus and cerebellar agenesis. Clin Genet 13:443-447.
16. 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.
17. Tosi M, Verpy E, Meo T (1997) Detection of mutations by Fluorescence-Assisted Mismatch Analysis (FAMA). In Boyle AL (ed): Current Protocols in Human Genetics. New York: John Wiley & Sons, pp 7.8.1-7.8.11.
18. Verpy E, Biasotto M, Meo T, Tosi M (1994) Efficient detection of point mutations on color-coded strands of target DNA. Proc Natl Acad Sci USA 91:1873-1877.
19. Vits L, Van Camp G, Coucke P, Fransen E, De Boulle K, Reyniers E, Korn B, Poutska A, Wilson G, Schrander-Stumpel C, Winter RM, Schwartz C, Willems PJ ( 1994) MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. Nature Genet 7:408-413.
20. Willems PJ, Brouwer OF, Dijkstra I, Wilmink J (1987) X-linked hydrocephalus. Am J Med Genet 27:921-928.