Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome

American Journal of Medical Genetics

Volumn 135 A, Issue 3, 2005, Pages 297-301

  Kroes, Hester Y ^a   Nievelstein, Rutger Jan A J ^a   Barth, Peter G ^b   Nikkels, Peter G J ^a   Bergmann, Carsten ^c   Gooskens, Rob H J M ^a   Visser, Gepke ^a   Van Amstel, Hans Kristian Ploos ^a   Beemer, Frits A ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b EMMA CHILDREN S HOSPITAL   (Netherlands)

^c RWTH AACHEN UNIVERSITY   (Germany)

Author keywords

Coloboma; Joubert syndrome; Molar tooth sign; Vermis hypoplasia; X linked inheritance

Indexed keywords

DNA;

ARTICLE; ARTIFICIAL INSEMINATION; AUTOPSY; BRAIN CORTEX; BRAIN MALFORMATION; BRAIN STEM; BRAIN VENTRICLE DILATATION; BREATHING PATTERN; CASE REPORT; CEREBELLUM DISEASE; CEREBELLUM VERMIS; CLINICAL FEATURE; COLOBOMA; COMPUTER ASSISTED TOMOGRAPHY; DANDY WALKER SYNDROME; DNA DETERMINATION; EYE MALFORMATION; GENETIC COUNSELING; HUMAN; HYDROCEPHALUS; HYPOPLASIA; INFANT; JOUBERT SYNDROME; MALE; MENTAL DEFICIENCY; MOLAR TOOTH; MUSCLE HYPOTONIA; NEUROIMAGING; PRIORITY JOURNAL; VISUAL IMPAIRMENT; X CHROMOSOMAL INHERITANCE; X CHROMOSOME LINKED CEREBRAL CEREBELLAR COLOBOMA SYNDROME; X CHROMOSOME LINKED DISORDER;

ABNORMALITIES, MULTIPLE; CEREBELLUM; CEREBRAL CORTEX; CHILD, PRESCHOOL; COLOBOMA; DIAGNOSIS, DIFFERENTIAL; FAMILY HEALTH; FATAL OUTCOME; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; INFANT; INFANT, NEWBORN; INHERITANCE PATTERNS; MENTAL RETARDATION; PEDIGREE; SEX FACTORS; SYNDROME;

EID: 19944368428     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30690     Document Type: Article

References (29)

1. Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW. 1992. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229-1239.
2. Bergmann C, Zerres K, Senderek J, Rudnik-Schöneborn S, Eggermann T, Häusler M, Mull M, Ramaekers VT. 2003. Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. Brain 126:1537-1544.
3. Billuart P, Bienvenu T, Ronce N, Des Portes V, Vinet MC, Zemni R, Crollius HR, Carrie A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns J-P, Beldjord C, Kahn A, Moraine C, Chelly J. 1998. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 392:823-826.
4. Blair IP, Gibson RR, Bennett CL, Chance PF. 2002. 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 107:190-196.
5. Dahlstrom JE, Cookman J, Jain S. 2000. Joubert syndrome: An affected female with bilateral colobomata. Pathology 32:283-285.
6. Ferland RJ, Eyaid W, Collura RV, Tully LD, Hill RS, Al-Nouri D, Al-Rumayyan A, Topcu M, Gascon G, Bodell A, Shugart Y, Ruvolo M, Walsh CA. 2004. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet 36:1008-1013.
7. Friede RL, Boltshauser E. 1978. Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome. Dev Med Child Neurol 20:758-763.
8. Graham JM, Wheeler P, Tackels-Horne D, Lin AE, Hall BD, May M, Short KM, Schwartz CE, Cox TC. 2003. A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13. Am J Med Genet 123A:37-44.
9. Joubert M, Eisenring J, Preston Robb J, Andermann F. 1969. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 19:813-825.
10. Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fufuda T, Guerrini R, Iida E, Itoh M, Feldman Lewanda A, Nanba Y, Oka A, Proud VK, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai EH, Dobyns WB. 2004. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat 23:147-159.
11. Keeler LC, Marsh SE, Leeflang EP, Woods CG, Sztriha L, Al Gazali L, Gururaj A, Gleeson JG. 2003. Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13. Am J Hum Genet 73:656-662.
12. Kher AS, Chattopadhyay A, Divekar A, Khambekar K, Bharucha BA. 1994. Joubert syndrome with polydactyly and optic coloboma in two sibs. Indian J Pediatr 61:729-732.
13. Laverda AM, Saia OS, Drigo P, Danieli E, Clementi M, Tenconi R. 1984. Chorioretinal coloboma and Joubert syndrome: A nonrandom association. J Pediatr 105:282-284.
14. Lindhout D, Barth PG, Valk J, Boen-Tan TN. 1980. The Joubert syndrome associated with bilateral chorioretinal coloboma. Eur J Pediatr 134:173-176.
15. Lindhout D, Barth PG. 1985. Letter to the editor. Chorioretinal coloboma and Joubert syndrome. J Pediatr 107:158-159.
16. Maria BL, Hoang KBN, Tusa RJ, Mancuso AA, Hamed LH, Quisling RG, Hove MT, Fennell EB, Booth-Jones M, Ringdahl DM, Yachnis AT, Creel G, Frerking B. 1997. "Joubert syndrome" revisited: Key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 12:423-430.
17. Maria BL, Boltshauser E, Palmer SC, Tran TX. 1999a. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol 14:583-591.
18. Maria BL, Quisling RG, Rosianz LC, Yachnis AT, Gitten J, Dede D, Fennell E. 1999b. Molar tooth sign in Joubert syndrome: Clinical, radiological, and pathological significance. J Child Neurol 14:368-376.
19. Parisi MA, Bennett CL, Eckert ML, Dobyns WB, Gleeson JG, Shaw DW, McDonald R, Eddy A, Chance PF, Glass IA. 2004. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet 75:82-91.
20. Pfeiffer RA. 1981. The Joubert syndrome associated with bilateral chorioretinal coloboma. Eur J Pediatr 137:101-102.
21. Raynes HR, Shanske A, Goldberg S, Burde R, Rapin I. 1999. Joubert syndrome: Monozygotic twins with discordant phenotypes. J Child Neurol 14:649-654.
22. Saraiva JM, Baraitser M. 1992. Joubert syndrome: A review. Am J Med Genet 43:726-731.
23. Satran D, Pierpont MAM, Dobyns WB. 1999. Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndrome: More than just variants of Joubert syndrome. Am J Med Genet 86:459-469.
24. Steinlin M, Schmid M, Landau K, Boltshauser E. 1997. Follow-up in children with Joubert syndrome. Neuropediatrics 28:204-210.
25. Ten Donkelaar HJ, Hoevenaars F, Wesseling P. 2000. A case of Joubert's syndrome with extensive cerebral malformations. Clin Neuropathol 19:85-93.
26. Van Dorp DB, Palan A, Kwee ML, Barth PG, van der Harten JJ. 1991. Joubert syndrome: A clinical and pathological description of an affected male and a female fetus from the same sibship. Am J Med Genet 40:100-104.
27. Van Royen-Kerkhof A, Poll-The BT, Kleijer WJ, van Diggelen OP, Aerts JMFG, Hopwood JJ, Beemer FA. 1998. Coexistence of Gaucher disease type I and Joubert syndrome. J Med Genet 35:965-966.
28. Verloes A, Lambotte C. 1989. Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. Am J Med Genet 32:227-232.
29. Yachnis AT, Rorke LB. 1999. Neuropathology of Joubert syndrome. J Child Neurol 14:655-659.