G2Cdb::Human Disease report

Disease id
D00000290
Name
Hirschsprung's disease
Nervous system disease
no

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00001881 L1CAM
L1 cell adhesion molecule
Y (9279760) Unknown (?) ?
G00001881 L1CAM
L1 cell adhesion molecule
Y (11857550) Single nucleotide polymorphism (SNP) ?
G00001881 L1CAM
L1 cell adhesion molecule
Y (15148591) Splice site mutation (SpS) Y
G00001881 L1CAM
L1 cell adhesion molecule
Y (15148591) Nonsense (No) Y

References

  • Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.

    Okamoto N, Del Maestro R, Valero R, Monros E, Poo P, Kanemura Y and Yamasaki M

    Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodo-cho, Izumi, Osaka 594-1101, Japan. okamoto@osaka.email.ne.jp.

    Abnormalities of the L1CAM gene, a member of the immunoglobulin gene superfamily of neural-cell adhesion molecules, are associated with X-linked hydrocephalus and some allelic disorders. Hirschsprung's disease (HSCR) is characterized by the absence of ganglion cells and the presence of hypertrophic nerve trunks in the distal bowel. There have been three reports of patients with X-linked hydrocephalus and HSCR with a mutation in the L1CAM gene. We report three more patients with similar conditions. We suspect that decreased L1CAM may be a modifying factor in the development of HSCR.

    Journal of human genetics 2004;49;6;334-337

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

    Parisi MA, Kapur RP, Neilson I, Hofstra RM, Holloway LW, Michaelis RC and Leppig KA

    Division of Genetics and Development, Department of Pediatrics, University of Washington and Children's Hospital and Regional Medical Center, Seattle, Washington 98105, USA. mparisi@u.washington.edu

    Congenital hydrocephalus associated with aqueductal stenosis and/or agenesis of the corpus callosum has been described in newborn males with mutations in L1CAM, a gene that encodes a neural cell adhesion molecule. These males usually have severe mental retardation and may have spastic paraplegia and adducted thumbs. In contrast, Hirschsprung disease, or absence of ganglion cells in the distal gut, has rarely been described in such individuals. We report a male infant who had severe hydrocephalus identified in the prenatal period with evidence of aqueductal stenosis and adducted thumbs at birth. He developed chronic constipation, and rectal biopsy confirmed the diagnosis of Hirschsprung disease. Molecular testing of the L1CAM gene revealed a G2254A mutation, resulting in a V752M amino acid substitution. A common polymorphism in RET, but no mutation, was identified. Our patient represents the third example of coincident hydrocephalus and Hirschsprung disease in an individual with an identified L1CAM mutation. We hypothesize that L1CAM-mediated cell adhesion may be important for the ability of ganglion cell precursors to populate the gut, and that L1CAM may modify the effects of a Hirschsprung disease-associated gene to cause intestinal aganglionosis.

    Funded by: NICHD NIH HHS: P30-HD28834; NIDDK NIH HHS: R01-DK52530

    American journal of medical genetics 2002;108;1;51-6

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

    Okamoto N, Wada Y and Goto M

    Department of Planning and Research, Osaka Medical Centre, Japan.

    Abnormalities of the L1CAM gene, a member of the immunoglobulin gene superfamily of neural cell adhesion molecules, are associated with X linked hydrocephalus and some allelic disorders. We describe a patient with X linked hydrocephalus and Hirschsprung's disease (HSCR) with a novel mutation in the L1CAM gene. This is the first report of HSCR with a mutant neural cell adhesion molecule. Although the disease phenotypes of this patient may well be independent, the alternative explanation that L1CAM mutations may contribute to both phenotypes cannot be excluded in view of an earlier report on another patient with both X linked hydrocephalus and HSCR.

    Journal of medical genetics 1997;34;8;670-1

Literature (3)

Pubmed - human_disease

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

    Okamoto N, Wada Y and Goto M

    Department of Planning and Research, Osaka Medical Centre, Japan.

    Abnormalities of the L1CAM gene, a member of the immunoglobulin gene superfamily of neural cell adhesion molecules, are associated with X linked hydrocephalus and some allelic disorders. We describe a patient with X linked hydrocephalus and Hirschsprung's disease (HSCR) with a novel mutation in the L1CAM gene. This is the first report of HSCR with a mutant neural cell adhesion molecule. Although the disease phenotypes of this patient may well be independent, the alternative explanation that L1CAM mutations may contribute to both phenotypes cannot be excluded in view of an earlier report on another patient with both X linked hydrocephalus and HSCR.

    Journal of medical genetics 1997;34;8;670-1

Pubmed - other

  • Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM.

    Okamoto N, Del Maestro R, Valero R, Monros E, Poo P, Kanemura Y and Yamasaki M

    Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Child Health, 840 Murodo-cho, Izumi, Osaka 594-1101, Japan. okamoto@osaka.email.ne.jp.

    Abnormalities of the L1CAM gene, a member of the immunoglobulin gene superfamily of neural-cell adhesion molecules, are associated with X-linked hydrocephalus and some allelic disorders. Hirschsprung's disease (HSCR) is characterized by the absence of ganglion cells and the presence of hypertrophic nerve trunks in the distal bowel. There have been three reports of patients with X-linked hydrocephalus and HSCR with a mutation in the L1CAM gene. We report three more patients with similar conditions. We suspect that decreased L1CAM may be a modifying factor in the development of HSCR.

    Journal of human genetics 2004;49;6;334-337

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

    Parisi MA, Kapur RP, Neilson I, Hofstra RM, Holloway LW, Michaelis RC and Leppig KA

    Division of Genetics and Development, Department of Pediatrics, University of Washington and Children's Hospital and Regional Medical Center, Seattle, Washington 98105, USA. mparisi@u.washington.edu

    Congenital hydrocephalus associated with aqueductal stenosis and/or agenesis of the corpus callosum has been described in newborn males with mutations in L1CAM, a gene that encodes a neural cell adhesion molecule. These males usually have severe mental retardation and may have spastic paraplegia and adducted thumbs. In contrast, Hirschsprung disease, or absence of ganglion cells in the distal gut, has rarely been described in such individuals. We report a male infant who had severe hydrocephalus identified in the prenatal period with evidence of aqueductal stenosis and adducted thumbs at birth. He developed chronic constipation, and rectal biopsy confirmed the diagnosis of Hirschsprung disease. Molecular testing of the L1CAM gene revealed a G2254A mutation, resulting in a V752M amino acid substitution. A common polymorphism in RET, but no mutation, was identified. Our patient represents the third example of coincident hydrocephalus and Hirschsprung disease in an individual with an identified L1CAM mutation. We hypothesize that L1CAM-mediated cell adhesion may be important for the ability of ganglion cell precursors to populate the gut, and that L1CAM may modify the effects of a Hirschsprung disease-associated gene to cause intestinal aganglionosis.

    Funded by: NICHD NIH HHS: P30-HD28834; NIDDK NIH HHS: R01-DK52530

    American journal of medical genetics 2002;108;1;51-6

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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