Hydrocephalus with Hirschsprung disease: Severe end of X-linked hydrocephalus spectrum

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 4, 2012, Pages 812-815

  Takenouchi, Toshiki ^a   Nakazawa, Mie ^b   Kanemura, Yonehiro ^c,d   Shimozato, Sachiko ^a   Yamasaki, Mami ^c,d   Takahashi, Takao ^a   Kosaki, Kenjiro ^a  

^a KEIO UNIVERSITY   (Japan)

^b Tokyo Metropolitan Ohtsuka Hospital   (Japan)

^c OSAKA NATIONAL HOSPITAL   (Japan)

^d NATIONAL HOSPITAL ORGANIZATION   (Japan)

Author keywords

Hirschsprung disease; Hydrocephalus; Neural cell adhesion molecule L1

Indexed keywords

NERVE CELL ADHESION MOLECULE L1;

AMNIOCENTESIS; ANOPLASTY; ANUS SPHINCTER; ARTICLE; BIRTH WEIGHT; BRAIN AQUEDUCT STENOSIS; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CONSTIPATION; CORPUS CALLOSUM; DISEASE ASSOCIATION; DISEASE SEVERITY; EXON; GENE; GESTATION PERIOD; GROWTH RETARDATION; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN TISSUE; HYDROCEPHALUS; HYDRONEPHROSIS; HYPOPLASIA; INFANT; JAPANESE; L1CAM GENE; MALE; MUTATIONAL ANALYSIS; NEWBORN; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; POSTOPERATIVE PERIOD; PRIORITY JOURNAL; PROTEIN STRUCTURE; PROTEIN SYNTHESIS; RECTUM BIOPSY; RECTUM SURGERY; STOMACH DISTENSION; URINARY TRACT INFECTION; X CHROMOSOME LINKED DISORDER; X LINKED HYDROCEPHALUS SPECTRUM;

ABNORMALITIES, MULTIPLE; CEREBRAL AQUEDUCT; CORPUS CALLOSUM; DNA MUTATIONAL ANALYSIS; GENETIC DISEASES, X-LINKED; HIRSCHSPRUNG DISEASE; HUMANS; HYDROCEPHALUS; INFANT; MALE; NEURAL CELL ADHESION MOLECULE L1;

EID: 84862793149     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35245     Document Type: Article

References (14)

1. Anderson RB, Turner KN, Nikonenko AG, Hemperly J, Schachner M, Young HM. 2006. The cell adhesion molecule l1 is required for chain migration of neural crest cells in the developing mouse gut. Gastroenterology 130: 1221- 1232.
2. Basel-Vanagaite L, Straussberg R, Friez MJ, Inbar D, Korenreich L, Shohat M, Schwartz CE. 2006. Expanding the phenotypic spectrum of L1CAM-associated disease. Clin Genet 69: 414- 419.
3. Bateman A, Jouet M, MacFarlane J, Du JS, Kenwrick S, Chothia C. 1996. Outline structure of the human L1 cell adhesion molecule and the sites where mutations cause neurological disorders. EMBO J 15: 6050- 6059.
4. Griseri P, Vos Y, Giorda R, Gimelli S, Beri S, Santamaria G, Mognato G, Hofstra RM, Gimelli G, Ceccherini I. 2009. Complex pathogenesis of Hirschsprung's disease in a patient with hydrocephalus, vesico-ureteral reflux and a balanced translocation t(3;17)(p12;q11). Eur J Hum Genet 17: 483- 490.
5. Jackson SR, Guner YS, Woo R, Randolph LM, Ford H, Shin CE. 2009. L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease. Pediatr Surg Int 25: 823- 825.
6. Jones KL. 2006. Smith's Recognizable Patterns of Human Malformation. Philadelphia, PA: Elsevier, Saunders. 202- 203 p.
7. Kenwrick S, Watkins A, De Angelis E. 2000. Neural cell recognition molecule L1: Relating biological complexity to human disease mutations. Hum Mol Genet 9: 879- 886.
8. Montfort M, Chabas A, Vilageliu L, Grinberg D. 2006. Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients. Blood Cells Mol Dis 36: 46- 52.
9. Nakakimura S, Sasaki F, Okada T, Arisue A, Cho K, Yoshino M, Kanemura Y, Yamasaki M, Todo S. 2008. Hirschsprung's disease, acrocallosal syndrome, and congenital hydrocephalus: Report of 2 patients and literature review. J Pediatr Surg 43: E13- E17.
10. Okamoto N, Wada Y, Goto M. 1997. Hydrocephalus and Hirschsprung's disease in a patient with a mutation of L1CAM. J Med Genet 34: 670- 671.
11. Okamoto N, Del Maestro R, Valero R, Monros E, Poo P, Kanemura Y, Yamasaki M. 2004. Hydrocephalus and Hirschsprung's disease with a mutation of L1CAM. J Hum Genet 49: 334- 337.
12. Parisi MA, Kapur RP, Neilson I, Hofstra RM, Holloway LW, Michaelis RC, Leppig KA. 2002. Hydrocephalus and intestinal aganglionosis: Is L1CAM a modifier gene in Hirschsprung disease? Am J Med Genet 108: 51- 56.
13. Vits L, Chitayat D, Van Camp G, Holden JJ, Fransen E, Willems PJ. 1998. Evidence for somatic and germline mosaicism in CRASH syndrome. Hum Mutat Suppl 1: S284- S287.
14. Yamasaki M, Thompson P, Lemmon V. 1997. CRASH syndrome: Mutations in L1CAM correlate with severity of the disease. Neuropediatrics 28: 175- 178.