Homozygosity mapping of a third Joubert syndrome locus to 6q23

Journal of Medical Genetics

Volumn 41, Issue 4, 2004, Pages 273-277

  Lagier Tourenne, C ^a   Boltshauser, E ^b   Breivik, N ^c   Gribaa, M ^a   Betard C ^d   Barbot, C ^e   Koenig, M ^a  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^c Aalesund Hospital   (Norway)

^d CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^e HOSPITAL MARIA PIA   (Portugal)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CALCULATION; CHROMOSOME 6Q; CONSANGUINITY; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENE MAPPING; GENETIC LINKAGE; GENOME; HOMOZYGOSITY; HUMAN; JOUBERT SYNDROME; MALE; MARKER GENE; PRIORITY JOURNAL; SCORING SYSTEM;

ATAXIA;

EID: 1942501807     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2003.014787     Document Type: Article

References (22)

1. Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 1969;19:813-25.
2. Boltshauser E, Isler W. Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dyspbsia of the cerebellar vermis. Neuropadiatrie 1977;8:57-66.
3. Maria BL, Hoang KB, Tusa RJ, Mancuso AA, Hamed LM, Quisling RG, Hove MT, Fennel EB, Booth-Jones M, Ringdahl DM, Yachnis AT, Creel G, Frerking B. "Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 1997;12:423-30.
4. Satran D, Pierpont ME, Dobyns WB. Cerebello-oculo-renal syndromes including Arima, Senior-Loken and COACH syndromes: more than just variants of Joubert syndrome. Am J Med Genet 1999;86:459-69.
5. Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB. Clinical nosologic and genetic aspects of Joubert and related syndromes. J Child Neurol 1999;14:660-6, discussion 669-72.
6. Blair IP, Gibson RR, Bennett CL, Chance PF. Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1. Am J Med Genet 2002;107:190-6.
7. Pellegrino JE, Lensch MW, Muenke M, Chance PF. Clinical and molecular analysis in Joubert syndrome. Am J Med Genet 1997;72:59-62.
8. Ben Hamida C, Doerflinger N, Belal S, Linder C, Reutenauer L, Dib C, Gyapay G, Vignal A, Le Paslier D, Cohen D, Pandolfo M, Mokini V, Novelli G, Hentati F, Ben Hamida M, Mandel J-L, Koenig M. Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nat Genet 1993;5:195-200.
9. Saar K, Al-Gazali L, Sztriha L, Rueschendorf F, Nur EKM, Reis A, Bayoumi R. Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity. Am J Hum Genet 1999;65:1666-71.
10. Valente EM, Salpietro DC, Brancati F, Bertini E, Galluccio T, Tortorella G, Briuglia S, Dallapiccola B. Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation. Am J Hum Genet 2003;73:663-70.
11. Keeler LC, Marsh SE, Leeflang EP, Woods CG, Sztriha L, Al-Gazali L, Gururaj A, Gleeson JG. Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3. Am J Hum Genet 2003;73:656-62.
12. Boltshauser E, Herdan M, Dumermuth G, Isler W. Joubert syndrome: clinical and polygraphic observations in a further case. Neuropediatrics 1981;12:181-91.
13. Steinlin M, Schmid M, Landau K, Boltshauser E. Follow-up in children with Joubert syndrome. Neuropediatrics 1997;28:204-11.
14. Friede RL, Boltshauser E. Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome, Dev Med Child Neurol 1978;20:758-63.
15. Boltshauser E, Forster I, Deonna T, Willi U. Joubert syndrome: are kidneys involved? Neuropediatrics 1995;26:320-1.
16. Barreirinho MS, Teixeira J, Moreira NC, Bastos S, Goncalvez S, Barbot MC. Síndromede Joubert: revisión de 12 casos [Joubert's syndrome: report of 12 cases]. Rev Neurol 2001;32:812-7.
17. Maria BL, Boltshauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol 1999;14:583-91.
18. Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, Marc S, Hazan J, Seboun E, Lathrop M, Gyapay G, Morissette J, Weissenbach J. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996;380:152-4.
19. Lagier-Tourenne C, Tranebjaerg L, Chaigne D, Gribaa M, Dollfus H, Silvestri G, Bétard C, Warter J, Koenig M. Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31. Eur J Hum Genet 2003;11:770-8.
20. Cottingham RW, Idury RM, Schaffer AA. Faster sequential genetic linkage computations. Am J Hum Genet 1993;53:252-63.
21. Lathrop GM, Lalouel JM, Julier C, Ott J. Multilocus linkage analysis in humans: detection of linkage and estimation of recombination. Am J Hum Genet 1985;37:482-98.
22. Ott J. Analysis of human genetic linkage. Baltimore, MD: John Hopkins University Press, 1991.