Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM

Journal of Medical Genetics

Volumn 34, Issue 8, 1997, Pages 670-671

  Okamoto, Nobuhiko ^a   Wada, Yoshinao ^a   Goto, Megumi ^a  

^a RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

Author keywords

Hirschsprung's disease; HSAS syndrome; L1CAM; X linked hydrocephalus

Indexed keywords

NERVE CELL ADHESION MOLECULE;

ALLELE; ARTICLE; CASE REPORT; GENE MUTATION; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN CELL; HYDROCEPHALUS; IMMUNOGLOBULIN GENE; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

EID: 0030738352     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.8.670     Document Type: Article

References (13)

1. Rosenthal A, Jouet M, Kenwrick S. Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. Nat Genet 1992;2:107-12.
2. Jouet M, Rosenthal A, Armstrong G, et al. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet 1994;7:402-7.
3. Vits L, Van Camp G, Coucke P, et al. MASA syndrome is due to mutations in the neural cell adhesion gene L1 CAM. Nat Genet 1994;7:408-13.
4. Ruiz JC, Cuppens H, Legius E, et al. Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. J Med Genet 1995;32: 549-52.
5. Kenwrick S, Jouet M, Donnai D. X linked hydrocephalus and MASA syndrome. J Med Genet 1996;33:59-65.
6. Fransen E, Vits L, Van Camp G, Willems PJ. The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule. Am J Med Genet 1996;64:73-7.
7. Fransen E, Lemmon V, Van Camp G, et al. CRASH syndrome: 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 1995;3:273-84.
8. Edery P, Lyonnet S, Mulligan LM, et al. Mutations in the RET proto-oncogene in Hirschsprung's disease. Nature 1994;367:378-80.
9. Romeo G, Ronchetto P, Luo Y, et al. Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 1994;367:377-80.
10. Puffenberger EG, Hosoda K, Washington SS, et al. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Cell 1994;79:1257-66.
11. Edery P, Attie T, Amiel J, et al. Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome) Nat Genet 1996;12:442-4.
12. Hofstra RMW, Osinga J, Tan-Sindhunata G, et al. A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenorype (Shah-Waardenburg syndrome). Nat Genet 1996;12:445-7.
13. Kaplan P. X linked recessive inheritance of agenesis of the corpus callosum. J Med Genet 1983;20:122-4.