Joubert-like syndrome unlinked to known candidate loci

Journal of Pediatrics

Volumn 144, Issue 2, 2004, Pages 264-269

  Janecke, Andreas R ^a,b   Müller, Thomas ^a   Gassner, Ingmar ^a   Kreczy, Alfons ^a   Schmid, Eduard ^a   Kronenberg, Florian ^a   Utermann, Barbara ^a   Utermann, Gerd ^a  

^a UNIVERSITY HOSPITAL INNSBRUCK   (Austria)

^b UNIVERSITY OF INNSBRUCK   (Austria)

Author keywords

Cerebellar vermis hypo aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis; Cerebellar vermis hypoplasia; COACH; Computed tomography; CT; CVH; HBD; Homozygosity by descent; Joubert syndrome; JS; MGDA; Morning glory disc anomaly; NPHP

Indexed keywords

ARTICLE; BIRTH WEIGHT; BREATHING DISORDER; CASE REPORT; CEREBELLUM VERMIS; CHROMOSOME 17P; CHROMOSOME ANALYSIS; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINITY; CYANOSIS; EYE MOVEMENT; FAMILY; FEMALE; GENE LOCUS; GENETIC LINKAGE; HEAD CIRCUMFERENCE; HOMOZYGOSITY; HUMAN; HYPOPLASIA; INFANT; JOUBERT SYNDROME; KIDNEY POLYCYSTIC DISEASE; LABORATORY TEST; MALE; NEUROIMAGING; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; TACHYPNEA; ADULT; CEREBELLUM; CONGENITAL MALFORMATION; GENETICS; HOMOZYGOTE; MENINGOCELE; OPTIC DISK; OPTIC NERVE DISEASE; PEDIGREE; PREGNANCY; PRESCHOOL CHILD; PSYCHOMOTOR DISORDER; SYNDROME;

ADULT; CEREBELLUM; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; HOMOZYGOTE; HUMANS; MALE; MENINGOCELE; OPTIC DISK; OPTIC NERVE DISEASES; PEDIGREE; POLYCYSTIC KIDNEY DISEASES; PREGNANCY; PSYCHOMOTOR DISORDERS; RESPIRATION DISORDERS; SYNDROME;

EID: 1542347710     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2003.11.010     Document Type: Article

References (23)

1. Joubert M., Eisenring J.J., Robb J.P., Andermann F. Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperapnea, abnormal eye movements, ataxia, and retardation. Neurology. 19:1969;813-825
2. Chance P.F., Cavalier L., Stran D., Pellegrino J.E., Koenig M., Dobyns W.B. Clinical nosologic and genetic aspects of Joubert and related syndromes. J Child Neurol. 14:1999;660-666
3. Maria B.L., Boltshauser E., Palmer S.C., Tran T.X. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol. 14:1999;583-590
4. Saraiva J.M., Baraitser M. Joubert syndrome: a review. Am J Med Genet. 43:1992;726-731
5. Saar K., Al-Gazali L., Sztriha L., Rueschendorf F., Nur-E-Kamal M., Reis A., et al. Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. Am J Hum Genet. 65:1999;1666-1671
6. Nataci F., Corrado L., Pierri M., Rossetti M., Zuccarini C., Riva P., et al. Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype. Am J Med Genet. 95:2000;467-472
7. Graber D., Antignac C., Deschenes G., Coulin A., Hermouet Y., Pedespan J.M., et al. Cerebellar vermis hypoplasia with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes. Arch Pediatr. 8:2001;186-190
8. Dib C., Faure S., Fizames C., Samson D., Drouot N., Vignal A., et al. A comprehensive genetic map of the human genome based on 5, 264 microsatellites. Nature. 380:1996;152-154
9. Terwilliger J.D., Ott J. Handbook of human genetic linkage. 1999;Johns Hopkins University Press, Baltimore (MD)
10. Slusher M.M., Weaver R.G. Jr., Greven C.M., Mundorf T.K., Cashwell L.F. The spectrum of cavitary optic disc anomalies in a family. Ophthalmology. 96:1989;342-347
11. Laverda A.M., Saia O.S., Drigo P., Danieli E., Clementi M., Tenconi R. Chorioretinal coloboma and Joubert syndrome: a nonrandom association. J Pediatr. 105:1984;282-284
12. Lindhout D., Barth P.G., Valk J., Boen-Tan T.N. The Joubert syndrome associated with bilateral chorioretinal coloboma. Eur J Pediatr. 134:1980;173-176
13. Lindhout D., Barth P.G. Chorioretinal coloboma and Joubert syndrome. [letter] J Pediatr. 107:1985;158
14. Beemer F.A., Gooskens R. Chorioretinal coloboma and Joubert syndrome. [letter] J Pediatr. 107:1985;158-159
15. Laverda A.M., Clementi M., Tenconi R. Chorioretinal coloboma and Joubert syndrome. [letter] J Pediatr. 107:1985;159
16. Hunter A.G.W., Rothman S.J., Hwang W.S., Deckelbaum R. Hepatic fibrosis, polycystic kidneys, colobomata, and encephalopathy in siblings. Clin Genet. 6:1974;82-89
17. Dieterich E., Straub E. Familial juvenile nephronophthisis with hepatic fibrosis and neurocutaneous dysplasia. Helv Paediatr Acta. 35:1980;261-267
18. Verloes A., Lambotte C. Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. Am J Med Genet. 32:1989;227-232
19. Kumar S., Rankin R. Renal insufficiency is a component of COACH syndrome. Am J Med Genet. 61:1996;122-126
20. Lewis S.M.E., Roberts E.A., Marcon M.A., Harvey E., Phillips M.J., Chuang S.A., et al. Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders. Am J Med Genet. 52:1994;419-426
21. Hildebrandt F., Nothwang H.G., Vossmerbaumer U., Springer C., Strahm B., Hoppe B., et al. Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B. Pediatr Nephrol. 12:1998;16-19
22. Raynes H.R., Shanske A., Goldberg S., Burde R., Rapin I. Joubert syndrome: monozygotic twins with discordant phenotypes. J Child Neurol. 14:1999;649-654
23. Terwilliger J.D., Shannon W.D., Lathrop G.M., Nolan J.P., Goldin L.R., Chase G.A., et al. True and false positive peaks in genome-wide scans: applications of length-biased sampling to linkage mapping. Am J Hum Genet. 61:1997;430-438