Hydrocephalus and intestinal aganglionosis: Is L1CAM a modifier gene in Hirschsprung disease?

American Journal of Medical Genetics

Volumn 108, Issue 1, 2002, Pages 51-56

  Parisi, Melissa A ^a,f   Kapur, Raj P ^a   Neilson, Ian ^b   Hofstra, Robert M W ^c   Holloway, Lynda W ^d   Michaelis, Ron C ^d   Leppig, Kathleen A ^e  

^a UNIVERSITY OF WASHINGTON   (United States)

^b SWEDISH MEDICAL CENTER   (United States)

^c UNIVERSITY OF GRONINGEN   (Netherlands)

^d GREENWOOD GENETIC CENTER   (United States)

^e CENTER FOR HEALTH STUDIES   (United States)

^f SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

Author keywords

Adducted thumbs; Aganglionosis; Aqueductal stenosis; Hirschsprung disease; L1CAM; X linked hydrocephalus

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CELL ADHESION; DISEASE ASSOCIATION; GENE; GENE MUTATION; HIRSCHSPRUNG DISEASE; HUMAN; HYDROCEPHALUS; INFANT; L1CAM GENE; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SYNDROME DELINEATION;

DROSOPHILA PROTEINS; FEMALE; HIRSCHSPRUNG DISEASE; HUMANS; HYDROCEPHALUS; INFANT, NEWBORN; LEUKOCYTE L1 ANTIGEN COMPLEX; LINKAGE (GENETICS); MAGNETIC RESONANCE IMAGING; MALE; MEMBRANE GLYCOPROTEINS; MUTATION; MUTATION, MISSENSE; NEURAL CELL ADHESION MOLECULES; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; SEX CHROMOSOME DISORDERS; X CHROMOSOME;

EID: 0037083016     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10185     Document Type: Article

References (31)

1. Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
2. Double heterozygosity for an RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease
3. Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders
4. A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
5. Specific polymorphisms in the RET proto-oncogene are overrepresented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression
6. DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene
7. Endothelin receptor-mediated signaling in Hirschsprung disease
8. X linked hydrocephalus and Hirschsprung's disease
9. Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease
10. Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease
11. Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait
12. RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems
13. Impaired expression of neural cell adhesion molecule L1 in the extrinsic nerve fibers in Hirschsprung's disease
14. X-linked spastic paraplegia (SPG1), MASA syndrome, and X-linked hydrocephalus result from mutations in the L1 gene
15. X linked recessive inheritance of agenesis of the corpus callosum
16. Hirschsprung disease and other enteric dysganglionoses
17. Neural cell adhesion molecule L1: Relating disease to function
18. X linked hydrocephalus and MASA syndrome
19. X-linked hydrocephalus
20. The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus
21. Neural adhesion molecule L1 as a member of the immunoglobulin superfamily with binding domains similar to fibronectin
22. Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM
23. The genetics of Hirschsprung disease
24. Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus
25. Congenital hydrocephalus: Nosology and guidelines for clinical approach and genetic counselling
26. Frequency of RET mutations in long- and short-segment Hirschsprung disease
27. Characterization of the cell adhesion molecules L1,N-CAM and J1 in the mouse intestine
28. A locus-specific mutation database for the neural cell adhesion molecule L1CAM (Xq28)
29. Evidence for somatic and germline mosaicism in CRASH syndrome
30. Hirschsprung's disease genes and the development of the enteric nervous system
31. CRASH syndrome: Mutations in L1CAM correlate with severity of the disease