« Previous
Next »
Seminars in Pediatric Neurology
Volume 16, Issue 3
, Pages 143-154
, September 2009
Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease
References
- Familial agenesis of the cerebellar vermis (A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation). Neurology. 1969;19:813–825
- . Joubert's syndrome: Episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. Neuropadiatrie. 1977;8:57–66
- “Joubert's syndrome” revisited: Key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol. 1997;12:423–430
- The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert's syndrome. Am J Hum Genet. 2004;75:82–91
- Mutations in the AHI1 gene, encoding Jouberin, cause Joubert's syndrome with cortical polymicrogyria. Am J Hum Genet. 2004;75:979–987
- Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert's syndrome. Nat Genet. 2004;36:1008–1013
- Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert's syndrome. Nat Genet. 2007;39:882–888
- The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert's syndrome. Am J Hum Genet. 2007;80:186–194
- Mutations in the cilia gene ARL13B lead to the classical form of Joubert's syndrome. Am J Hum Genet. 2008;83:170–179
- The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert's syndrome type B) and Meckel's syndrome. Nat Genet. 2007;39:875–881
- The centrosomal protein nephrocystin-6 is mutated in Joubert's syndrome and activates transcription factor ATF4. Nat Genet. 2006;38:674–681
- . Ciliary Function in Mammalian Development, vol 436. Oxford, UK: Elsevier; 2008;
- The Ciliopathies: An emerging class of human genetic disorders. Annu Rev Genom Hum Genet. 2006;7:125–148
- CC2D2A is mutated in Joubert's syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am J Hum Genet. 2008;83:559–571
- Distinguishing the four genetic causes of Joubert's syndrome-related disorders. Ann Neurol. 2005;57:513–519
- Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes. Am J Med Genet. 2004;125A:125–134discussion 117
- . Joubert's syndrome: A review. Am J Med Genet. 1992;43:726–731
- Development of hydrocephalus in a patient with Joubert's syndrome. J Postgrad Med. 2004;50:153
- Quantitative assessment of brainstem development in Joubert's syndrome and Dandy-Walker syndrome. J Child Neurol. 2001;16:751–758
- . Vermian agenesis and unsegmented midbrain tectum (Case report). J Neurosurg. 1977;47:605–608
- . Uncommon syndromes of cerebellar vermis aplasia (I Joubert's syndrome). Dev Med Child Neurol. 1978;20:758–763
- . Familial juvenile nephronophthisis with hepatic fibrosis and neurocutaneous dysplasia. Helv Pædiatr Acta. 1980;35:261–267
- . The prenatal diagnosis of Joubert's syndrome of familial agenesis of the cerebellar vermis. Prenat Diagn. 1984;4:391–395
- . Joubert's syndrome with retinal dysplasia: Neonatal tachypnoea as the clue to a genetic brain-eye malformation. Arch Dis Child. 1984;59:709–718
- Variability of outcome in Joubert's syndrome. Neuropediatrics. 1985;16:43–45
- Cerebro-oculo-hepato-renal syndrome (Arima' syndrome): A distinct clinicopathological entity. J Child Neurol. 1986;1:338–346
- Joubert's syndrome: A clinical and pathological description of an affected male and a female fetus from the same sibship. Am J Med Genet. 1991;40:100–104
- Joubert's syndrome associated with Leber amaurosis and multicystic kidneys. Am J Med Genet. 1993;45:542–547
- Prenatal diagnosis of Joubert's syndrome complicated with encephalocele using two-dimensional and three-dimensional ultrasound. Ultrasound Obstet Gynecol. 1999;14:360–362
- . A case of Joubert's syndrome with extensive cerebral malformations. Clin Neuropathol. 2000;19:85–93
- Diffusion tensor imaging in Joubert's syndrome. AJNR Am J Neuroradiol. 2007;28:1929–1933
- Absence of decussation of the superior cerebellar peduncles in patients with Joubert's syndrome. Am J Med Genet A. 2008;146A:1389–1394
- Diffusion-tensor MR imaging and fiber tractography: A new method of describing aberrant fiber connections in developmental CNS anomalies. Radiographics. 2005;25:53–65discussion: 66-68
- Joubert's syndrome. Arch Ophthalmol. 1989;107:709–713
- . Ocular and oculomotor signs in Joubert's syndrome. J Child Neurol. 1999;14:621–627
- . A syndrome of congenital retinal dystrophy and saccade palsy—A subset of Leber's amaurosis. Br J Ophthalmol. 1984;68:421–431
- Joubert's syndrome: New cases and review of clinicopathologic correlation. Pediatr Neurol. 1999;20:274–281
- Joubert's syndrome: Long-term follow-up. Dev Med Child Neurol. 2004;46:694–699
- Eye movement abnormalities in Joubert's syndrome. Invest Ophthalmol Vis Sci. May 14 2009;[Epub ahead of print]
- Ophthalmic features of Joubert's syndrome. Ophthalmology. 2008;115:2286–2289
- Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosis. Am J Ophthalmol. 1989;107:624–631
- Follow-up in children with Joubert's syndrome. Neuropediatrics. 1997;28:204–211
- . Hidden intelligence of a multiply handicapped child with Joubert's syndrome. Dev Med Child Neurol. 1990;32:261–266
- Neurobehavioral development in Joubert's syndrome. J Child Neurol. 1998;13:391–397
- . Autistic features in Joubert's syndrome: A genetic disorder with agenesis of the cerebellar vermis. Biol Psychiatry. 1991;29:287–294
- Autism and autistic behavior in Joubert's syndrome. J Child Neurol. 1999;14:636–641
- Oromotor and communication findings in Joubert's syndrome: Further evidence of multisystem apraxia. J Child Neurol. 2006;21:160–163
- Joubert's syndrome is not a cause of classical autism. Am J Med Genet A. 2005;132:347–351
- Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello-oculo-renal syndromes. Am J Med Genet A. 2004;131:71–76
- . Juvenile nephronophthisis. In: Barratt TM, Avner ED, Harmon WE editor. Pediatric Nephrology. Baltimore: Williams & Wilkins; 1999;p. 453–458
- AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert's syndrome. J Med Genet. 2006;43:334–339
- Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert's syndrome. Pediatr Nephrol. 2006;21:32–35
- . Cerebello-oculo-renal syndromes including Arima, senior-Loken and COACH syndromes: More than just variants of Joubert's syndrome. Am J Med Genet. 1999;86:459–469
- . Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. Am J Med Genet. 1989;32:227–232
- Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome/Joubert's syndrome with congenital hepatic fibrosis. J Med Genet. July 1, 2009;[Epub ahead of print]
- . The face of Joubert's syndrome: A study of dysmorphology and anthropometry. Am J Med Genet A. 2007;143A:3235–3242
- Clinical features and revised diagnostic criteria in Joubert's syndrome. J Child Neurol. 1999;14:583–590discussion 590-591
- Parisi MA, Glass IA: Joubert's syndrome. in GeneReviews at GeneTests-GeneClinics: Medical Genetics Information Resource [database online]. in Copyright, University of Washington, Seattle. 1997-2007. Available at: http://www.geneclinics.org or http://www.genetests.org. Vol. 2007 (Seattle, 2007)
- . A survey of Joubert's syndrome. David W. Smith Workshop. 1994;97
- Joubert's syndrome (and related disorders) (OMIM 213,300). Eur J Hum Genet. 2007;15:511–521
- The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum Mol Genet. 2007;16:173–186
- Mutations in INVS encoding Inversine cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left–right axis determination. Nat Genet. 2003;34:413–420
- Cerebellar vermis hypoplasia with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes. Arch Pediatr. 2001;8:186–190
- Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I. Pediatr Neurol. 2003;28:142–144
- Jouberin localizes to collecting ducts and interacts with nephrocystin-1. Kidney Int. 2008;74:1139–1149
- CEP290 mutations are frequently identified in the oculo-renal form of Joubert's syndrome-related disorders. Am J Hum Genet. 2007;81:104–113
- A new syndrome with features of the Smith–Lemli–Opitz and Meckel-Gruber syndromes in a sibship with cerebellar defects. Am J Med Genet. 1987;26:321–336
- Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel's syndrome. Am J Hum Genet. 2007;81:170–179
- Identification of CC2D2A as a Meckel's syndrome gene adds an important piece to the ciliopathy puzzle. Am J Hum Genet. 2008;82:1361–1367
- The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber's syndrome and the wpk rat. Nat Genet. 2006;38:191–196
- A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nat Genet. 1997;17:149–153
- NPHP1 gene deletion is a rare cause of Joubert's syndrome related disorders. J Med Genet. 2005;42:e9
- Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel–Gruber syndrome. Hum Mutat. 2008;29:45–52
- Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet–Biedl syndrome. Nat Genet. 2008;40:443–448
- Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber's congenital amaurosis. Am J Hum Genet. 2006;79:556–561
- Spectrum of NPHP6/CEP290 mutations in Leber's congenital amaurosis and delineation of the associated phenotype. Hum Mutat. 2007;28:416
- Mutation analysis of NPHP6/CEP290 in patients with Joubert-syndrome and senior-Loken-syndrome. J Med Genet. 2007;44:657–663
- . From syndrome families to functional genomics. Nat Rev Genet. 2004;5:545–551
- Dissection of epistasis in oligogenic Bardet–Biedl syndrome. Nature. 2006;439:326–330
- Evidence of oligogenic inheritance in nephronophthisis. J Am Soc Nephrol. 2007;18:2789–2795
- Triallelic inheritance in Bardet–Biedl syndrome, a Mendelian recessive disorder. Science. 2001;293:2256–2259
- . An evolving view of human genetic disease transmission. Nat Rev Genet. 2002;3:779–789
- High NPHP1 and NPHP6 mutation rate in patients with Joubert's syndrome and nephronophthisis: Potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations. J Am Soc Nephrol. 2007;18:1566–1575
- . The graded response to Sonic hedgehog depends on cilia architecture. Dev Cell. 2007;12:767–778
- Ftm is a novel basal body protein of cilia involved in Shh signaling. Development. 2007;134:2569–2577
- Cep164, a novel centriole appendage protein required for primary cilium formation. J Cell Biol. 2007;179:321–330
- . Cilia and developmental signaling. Annu Rev Cell Dev Biol. 2007;23:345–373
- . The primary cilium at the crossroads of mammalian hedgehog signaling. Curr Top Dev Biol. 2008;85:225–260
- The primary cilium coordinates signaling pathways in cell cycle control and migration during development and tissue repair. Curr Top Dev Biol. 2008;85:261–301
- . Role of platelet-derived growth factors in physiology and medicine. Genes Dev. 2008;22:1276–1312
- . Wnt/beta-catenin signaling in development and disease. Cell. 2006;127:469–480
- . Ciliary function and Wnt signal modulation. Curr Top Dev Biol. 2008;85:175–195
- Nodal flow and the generation of left–right asymmetry. Cell. 2006;125:33–45
- Randomization of left–right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein. Cell. 1998;95:829–837
- Mechanism of nodal flow: A conserved symmetry breaking event in left–right axis determination. Cell. 2005;121:633–644
- Determination of left–right patterning of the mouse embryo by artificial nodal flow. Nature. 2002;418:96–99
- . The left–right axis in the mouse: From origin to morphology. Development. 2006;133:2095–2104
- Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left–right development of the brain, heart and gut. Development. 2005;132:1247–1260
- Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis. Development. 2005;132:1907–1921
- . Basal bodies platforms for building cilia. Curr Top Dev Biol. 2008;85:1–22
- . Intraflagellar transport (IFT) role in ciliary assembly, resorption and signaling. Curr Top Dev Biol. 2008;85:23–61
- . Overview of structure and function of mammalian cilia. Annu Rev Physiol. 2007;69:377–400
- . Control of neuronal precursor proliferation in the cerebellum by Sonic hedgehog. Neuron. 1999;22:103–114
- Hedgehog signaling in the mouse requires intraflagellar transport proteins. Nature. 2003;426:83–87
- Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes. Hum Mol Genet. 2005;14:645–656
- Nephrocystin specifically localizes to the transition zone of renal and respiratory cilia and photoreceptor connecting cilia. J Am Soc Nephrol. 2006;17:2424–2433
- Cilia proteins control cerebellar morphogenesis by promoting expansion of the granule progenitor pool. J Neurosci. 2007;27:9780–9789
- Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool. Dev Biol. 2008;317:246–259
- . Nephronophthisis-associated ciliopathies. J Am Soc Nephrol. 2007;18:1855–1871
- Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert's syndrome. Nat Genet. 2006;38:623–625
- 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. 2006;15:1847–1857
- . CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium. Hum Mol Genet. 2008;17:3796–3805
- CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease. Dev Cell. 2008;15:187–197
- Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons. Proc Natl Acad Sci U S A. 2007;104:15917–15922
- A mouse model for Meckel's syndrome type 3. J Am Soc Nephrol. Feb 11, 2009;[Epub ahead of print]
- Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice. J Clin Invest. 2008;118:2785–2795
- Functional genomic analysis of the ADP-ribosylation factor family of GTPases: Phylogeny among diverse eukaryotes and function in C elegans. FASEB J. 2004;18:1834–1850
- A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney. Development. 2004;131:4085–4093
- A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane Biogenesis. Cell. 2007;129:1201–1213
- . Bardet–Biedl syndrome: beyond the cilium. Pediatr Nephrol. 2007;22:926–936
- Targeted disruption of Nphp1 causes male infertility due to defects in the later steps of sperm morphogenesis in mice. Hum Mol Genet. 2008;17:3368–3379
- . Sonic hedgehog regulates Gli activator and repressor functions with spatial and temporal precision in the mid/hindbrain region. Development. 2006;133:1799–1809
- . Gli3 Coordinates three-dimensional patterning and growth of the tectum and cerebellum by integrating Shh and Fgf8 signaling. Development. 2008;135:2093–2103
- Intraflagellar transport protein 172 is essential for primary cilia formation and plays a vital role in patterning the mammalian brain. Dev Biol. 2009;325:24–32
- Morphogenetic and cellular movements that shape the mouse cerebellum; insights from genetic fate mapping. Neuron. 2005;45:27–40
Supported by the National Institutes of Health (NCRR 5KL2RR025015), the Arc of Washington State Trust Fund and the March of Dimes Endowment for Healthier Babies at Seattle Children's Hospital (to D.D.).
PII: S1071-9091(09)00042-4
doi: 10.1016/j.spen.2009.06.002
© 2009 Elsevier Inc. All rights reserved.
« Previous
Next »
Seminars in Pediatric Neurology
Volume 16, Issue 3
, Pages 143-154
, September 2009
