Genotypes and phenotypes of Joubert syndrome and related disorders

European Journal of Medical Genetics - Tập 51 - Trang 1-23 - 2008
Enza Maria Valente1,2, Francesco Brancati1,3,4, Bruno Dallapiccola1,5
1IRCCS CSS-Mendel Institute, Neurogenetics Unit, Viale Regina Margherita 261, 00198 Rome, Italy
2Department of Medical and Surgical Pediatric Sciences, University of Messina, Messina, Italy
3CeSI, Aging Research Centre, G. d'Annunzio University Foundation, Chieti, Italy
4Department of Biomedical Sciences, “G. D’Annunzio” University Foundation, Chieti, Italy
5Department of Experimental Medicine, La Sapienza University, Rome, Italy

Tài liệu tham khảo

Aicardi, 1983, Joubert's syndrome. Apropos of 5 cases, Arch. Fr. Pediatr., 40, 625 Andermann, 1999, History of Joubert syndrome and a 30-year follow-up of the original proband, J. Child Neurol., 14, 565, 10.1177/088307389901400903 Arts, 2007, Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome, Nat. Genet., 39, 882, 10.1038/ng2069 Baala, 2007, Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome, Am. J. Hum. Genet., 81, 170, 10.1086/519494 Baala, 2007, The Meckel–Gruber syndrome gene, MKS3, is mutated in Joubert syndrome, Am. J. Hum. Genet., 80, 186, 10.1086/510499 Betz, 2000, Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis, J. Pediatr., 136, 828, 10.1067/mpd.2000.106225 Boltshauser, 1977, Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis, Neuropadiatrie, 8, 57, 10.1055/s-0028-1091505 Brancati, 2007, CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders, Am. J. Hum. Genet., 81, 104, 10.1086/519026 Caridi, 1998, Renal–retinal syndromes: association of retinal anomalies and recessive nephronophthisis in patients with homozygous deletion of the NPH1 locus, Am. J. Kidney Dis., 32, 1059, 10.1016/S0272-6386(98)70083-6 Caridi, 2006, Nephronophthisis type 1 deletion syndrome with neurological symptoms: prevalence and significance of the association, Kidney Int., 70, 1342, 10.1038/sj.ki.5001768 Castori, 2005, NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders, J. Med. Genet., 42, e9, 10.1136/jmg.2004.027375 Chang, 2006, In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse, Hum. Mol. Genet., 15, 1847, 10.1093/hmg/ddl107 Cideciyan, 2007, Centrosomal–ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis, Hum. Mutat., 28, 1074, 10.1002/humu.20565 Consugar, 2007, Molecular diagnostics of Meckel–Gruber syndrome highlights phenotypic differences between MKS1 and MKS3, Hum. Genet., 121, 591, 10.1007/s00439-007-0341-3 Davenport, 2005, An incredible decade for the primary cilium: a look at a once-forgotten organelle, Am. J. Physiol. Renal Physiol., 289, F1159, 10.1152/ajprenal.00118.2005 Delous, 2007, The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome, Nat. Genet., 39, 875, 10.1038/ng2039 den Hollander, 2006, Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis, Am. J. Hum. Genet., 79, 556, 10.1086/507318 Dixon-Salazar, 2004, Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria, Am. J. Hum. Genet., 75, 979, 10.1086/425985 Edwards, 1988, Joubert syndrome: early diagnosis by recognition of the behavioral phenotype and confirmation by cranial sonography, J. Child Neurol., 3, 247, 10.1177/088307388800300403 Egger, 1982, Joubert–Boltshauser syndrome with polydactyly in siblings, J. Neurol. Neurosurg. Psychiatry, 45, 737, 10.1136/jnnp.45.8.737 Eichers, 2004, Triallelic inheritance: a bridge between Mendelian and multifactorial traits, Ann. Med., 36, 262, 10.1080/07853890410026214 Ferland, 2004, Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome, Nat. Genet., 36, 1008, 10.1038/ng1419 V. Frank, A.I. den Hollander, N.O. Bruchle, M.N. Zonneveld, G. Nurnberg, C. Becker, et al., Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel–Gruber syndrome. Hum. Mutat., in press, doi:10.1002/humu.20614. Genuardi, 1993, Cerebro-reno-digital (Meckel-like) syndrome with Dandy–Walker malformation, cystic kidneys, hepatic fibrosis, and polydactyly, Am. J. Med. Genet., 47, 50, 10.1002/ajmg.1320470111 Gleeson, 2004, Molar tooth sign of the midbrain–hindbrain junction: occurrence in multiple distinct syndromes, Am. J. Med. Genet., A 125, 125, 10.1002/ajmg.a.20437 Helou, 2007, Mutation analysis of NPHP6/CEP290 in patients with Joubert-syndrome and Senior–Loken-syndrome, J. Med. Genet., 44, 657, 10.1136/jmg.2007.052027 Hildebrandt, 2007, Nephronophthisis-associated ciliopathies, J. Am. Soc. Nephrol., 18, 1855, 10.1681/ASN.2006121344 Holroyd, 1991, Autistic features in Joubert syndrome: a genetic disorder with agenesis of the cerebellar vermis, Biol. Psychiatry, 29, 287, 10.1016/0006-3223(91)91291-X Houdou, 1986, Joubert syndrome associated with unilateral ptosis and Leber congenital amaurosis, Pediatr. Neurol., 2, 102, 10.1016/0887-8994(86)90065-2 Joubert, 1968, Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation, Neurology, 18, 302 Katsanis, 2004, The oligogenic properties of Bardet–Biedl syndrome, Hum. Mol. Genet., 13, R65, 10.1093/hmg/ddh092 Katsanis, 2006, Ciliary proteins and exencephaly, Nat. Genet., 38, 135, 10.1038/ng0206-135 Keeler, 2003, Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12–q13.3, Am. J. Hum. Genet., 73, 656, 10.1086/378206 Khaddour, 2007, Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype–phenotype correlation. Mutation in brief #960, Hum. Mutat., 28, 523, 10.1002/humu.9489 King, 1984, Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain–eye malformation, Arch. Dis. Child, 59, 709, 10.1136/adc.59.8.709 Konrad, 1996, Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis, Hum. Mol. Genet., 5, 367, 10.1093/hmg/5.3.367 Kumada, 2004, Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related cerebello-oculo-renal syndromes, Am. J. Med. Genet. A, 131, 71, 10.1002/ajmg.a.30294 Kyttala, 2006, MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome, Nat. Genet., 38, 155, 10.1038/ng1714 Lagier-Tourenne, 2004, Homozygosity mapping of a third Joubert syndrome locus to 6q23, J. Med. Genet., 41, 273, 10.1136/jmg.2003.014787 Laverda, 1984, Chorioretinal coloboma and Joubert syndrome: a nonrandom association, J. Pediatr., 105, 282, 10.1016/S0022-3476(84)80133-X Lee, 2005, Diffusion-tensor MR imaging and fiber tractography: a new method of describing aberrant fiber connections in developmental CNS anomalies, Radiographics, 25, 53, 10.1148/rg.251045085 Lindhout, 1980, The Joubert syndrome associated with bilateral chorioretinal coloboma, Eur. J. Pediatr., 134, 173, 10.1007/BF01846041 Louie, 2005, Genetic basis of Joubert syndrome and related disorders of cerebellar development, Hum. Mol. Genet., 14, R235, 10.1093/hmg/ddi264 Mainzer, 1970, Familial nephropathy associated with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities, Am. J. Med., 49, 556, 10.1016/S0002-9343(70)80051-1 Maria, 1997, “Joubert syndrome” revisited: key ocular motor signs with magnetic resonance imaging correlation, J. Child Neurol., 12, 423, 10.1177/088307389701200703 Maria, 1999, Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance, J. Child Neurol., 14, 368, 10.1177/088307389901400605 Matsuzaka, 1986, Cerebro-oculo-hepato-renal syndrome (Arima's syndrome): a distinct clinicopathological entity, J. Child Neurol., 1, 338, 10.1177/088307388600100404 Mayer, 1982, A rare form of optical, choroidal and retinal dysplasia combined with an occipital encephalocele, Graefes Arch. Clin. Exp. Ophthalmol., 219, 72, 10.1007/BF02173444 Parisi, 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, 10.1086/421846 Parisi, 2006, AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome, J. Med. Genet., 43, 334, 10.1136/jmg.2005.036608 Perrault, 2007, Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype, Hum. Mutat., 28, 416, 10.1002/humu.9485 Poretti, 2007, Diffusion tensor imaging in Joubert syndrome, Am. J. Neuroradiol., 28, 1929, 10.3174/ajnr.A0703 Romano, 2006, Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study, Neuropediatrics, 37, 42, 10.1055/s-2006-923838 Roume, 1998, A gene for Meckel syndrome maps to chromosome 11q13, Am. J. Hum. Genet., 63, 1095, 10.1086/302062 Saar, 1999, Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity, Am. J. Hum. Genet., 65, 1666, 10.1086/302655 Salonen, 1984, The Meckel syndrome: clinicopathological findings in 67 patients, Am. J. Med. Genet., 18, 671, 10.1002/ajmg.1320180414 Salonen, 1998, Meckel syndrome, J. Med. Genet., 35, 497, 10.1136/jmg.35.6.497 Saraiva, 1992, Joubert syndrome: a review, Am. J. Med. Genet., 43, 726, 10.1002/ajmg.1320430415 Satran, 1999, Cerebello-oculo-renal syndromes including Arima, Senior–Loken and COACH syndromes: more than just variants of Joubert syndrome, Am. J. Med. Genet., 86, 459, 10.1002/(SICI)1096-8628(19991029)86:5<459::AID-AJMG12>3.0.CO;2-C Sayer, 2006, The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4, Nat. Genet., 38, 674, 10.1038/ng1786 Simonelli, 2007, Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients, Invest. Ophthalmol. Vis. Sci., 48, 4284, 10.1167/iovs.07-0068 Singla, 2006, The primary cilium as the cell's antenna: signaling at a sensory organelle, Science, 313, 629, 10.1126/science.1124534 Smith, 2006, The transmembrane protein meckelin (MKS3) is mutated in Meckel–Gruber syndrome and the wpk rat, Nat. Genet., 38, 191, 10.1038/ng1713 Summers, 1995, Dandy–Walker malformation in the Meckel syndrome, Am. J. Med. Genet., 55, 57, 10.1002/ajmg.1320550116 Tory, 2007, High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations, J. Am. Soc. Nephrol., 18, 1566, 10.1681/ASN.2006101164 Utsch, 2006, Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome, Pediatr. Nephrol., 21, 32, 10.1007/s00467-005-2054-y Valente, 2003, Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation, Am. J. Hum. Genet., 73, 663, 10.1086/378241 Valente, 2005, Distinguishing the four genetic causes of Jouberts syndrome-related disorders, Ann. Neurol., 57, 513, 10.1002/ana.20422 Valente, 2006, AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders, Ann. Neurol., 59, 527, 10.1002/ana.20749 Valente, 2006, Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome, Nat. Genet., 38, 623, 10.1038/ng1805 van Dorp, 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, 10.1002/ajmg.1320400121 Verloes, 1989, Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis, Am. J. Med. Genet., 32, 227, 10.1002/ajmg.1320320217 Vogel, 2005, News focus: betting on cilia, Science, 310, 216, 10.1126/science.310.5746.216 Widjaja, 2006, Diffusion tensor imaging of midline posterior fossa malformations, Pediatr. Radiol., 36, 510, 10.1007/s00247-006-0146-x Wolf, 2007, Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis, Kidney Int., 72, 1520, 10.1038/sj.ki.5002630 Yachnis, 1999, Neuropathology of Joubert syndrome, J. Child Neurol., 14, 655, 10.1177/088307389901401006