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Joubert syndrome and related disorders

MedGen UID:
1826007
•Concept ID:
C5679612
•
Disease or Syndrome
Synonym: JSRD
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
Autosomal recessive inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0015369
Orphanet: ORPHA140874

Definition

Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomaly syndromes in which the mandatory feature is the ``molar tooth sign'' (MTS), a complex midbrain-hindbrain malformation recognizable on brain imaging. The MTS is characterized by cerebellar vermis hypodysplasia, thickening and malorientation of the superior cerebellar peduncles and abnormally deep interpeduncular fossa. [from ORDO]

Professional guidelines

PubMed

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.
Poretti A, Vitiello G, Hennekam RC, Arrigoni F, Bertini E, Borgatti R, Brancati F, D'Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E
Orphanet J Rare Dis 2012 Jan 11;7:4. doi: 10.1186/1750-1172-7-4. PMID: 22236771Free PMC Article
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group, Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM
Hum Mutat 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. PMID: 20232449Free PMC Article
Genotypes and phenotypes of Joubert syndrome and related disorders.
Valente EM, Brancati F, Dallapiccola B
Eur J Med Genet 2008 Jan-Feb;51(1):1-23. Epub 2007 Nov 23 doi: 10.1016/j.ejmg.2007.11.003. PMID: 18164675

Recent clinical studies

Etiology

Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
Radha Rama Devi A, Naushad SM, Lingappa L
Pediatr Neurol 2020 May;106:43-49. Epub 2020 Feb 4 doi: 10.1016/j.pediatrneurol.2020.01.012. PMID: 32139166
Joubert syndrome and related disorders.
Valente EM, Dallapiccola B, Bertini E
Handb Clin Neurol 2013;113:1879-88. doi: 10.1016/B978-0-444-59565-2.00058-7. PMID: 23622411
Joubert syndrome and related disorders.
Paprocka J, Jamroz E
Neurol Neurochir Pol 2012 Jul-Aug;46(4):379-83. doi: 10.5114/ninp.2012.30457. PMID: 23023437
Joubert Syndrome and related disorders.
Brancati F, Dallapiccola B, Valente EM
Orphanet J Rare Dis 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. PMID: 20615230Free PMC Article
Genotypes and phenotypes of Joubert syndrome and related disorders.
Valente EM, Brancati F, Dallapiccola B
Eur J Med Genet 2008 Jan-Feb;51(1):1-23. Epub 2007 Nov 23 doi: 10.1016/j.ejmg.2007.11.003. PMID: 18164675

Diagnosis

Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
Radha Rama Devi A, Naushad SM, Lingappa L
Pediatr Neurol 2020 May;106:43-49. Epub 2020 Feb 4 doi: 10.1016/j.pediatrneurol.2020.01.012. PMID: 32139166
Joubert syndrome and related disorders.
Valente EM, Dallapiccola B, Bertini E
Handb Clin Neurol 2013;113:1879-88. doi: 10.1016/B978-0-444-59565-2.00058-7. PMID: 23622411
Joubert syndrome and related disorders.
Paprocka J, Jamroz E
Neurol Neurochir Pol 2012 Jul-Aug;46(4):379-83. doi: 10.5114/ninp.2012.30457. PMID: 23023437
Joubert Syndrome and related disorders.
Brancati F, Dallapiccola B, Valente EM
Orphanet J Rare Dis 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. PMID: 20615230Free PMC Article
Nephronophthisis.
Simms RJ, Eley L, Sayer JA
Eur J Hum Genet 2009 Apr;17(4):406-16. Epub 2008 Dec 10 doi: 10.1038/ejhg.2008.238. PMID: 19066617Free PMC Article

Therapy

Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.
Lee SH, Nam TS, Li W, Kim JH, Yoon W, Choi YD, Kim KH, Cai H, Kim MJ, Kim C, Choy HE, Kim N, Chay KO, Kim MK, Choi SY
Sci Rep 2017 Aug 31;7(1):10222. doi: 10.1038/s41598-017-10652-z. PMID: 28860541Free PMC Article

Prognosis

Pontine tegmental cap dysplasia: the role of diffusion tensor imaging.
Raghuveer K, Dikkatwar V, Joshi MV, Shetty DS
BMJ Case Rep 2023 Nov 22;16(11) doi: 10.1136/bcr-2022-253556. PMID: 37993144Free PMC Article
Recent advances in the molecular diagnosis of polycystic kidney disease.
Bergmann C
Expert Rev Mol Diagn 2017 Dec;17(12):1037-1054. Epub 2017 Nov 16 doi: 10.1080/14737159.2017.1386099. PMID: 28952822
AN UNUSUAL PRESENTATION OF JOUBERT SYNDROME AND RELATED DISORDERS IN A NEWBORN: PANHYPOPITUITARISM.
Erol S, Demirel N, Bas AY, Ozcan B, Celik IH, Isik DU
Genet Couns 2016;27(3):367-371. PMID: 30204965
Joubert Syndrome and related disorders.
Brancati F, Dallapiccola B, Valente EM
Orphanet J Rare Dis 2010 Jul 8;5:20. doi: 10.1186/1750-1172-5-20. PMID: 20615230Free PMC Article
Clinical and molecular features of Joubert syndrome and related disorders.
Parisi MA
Am J Med Genet C Semin Med Genet 2009 Nov 15;151C(4):326-40. doi: 10.1002/ajmg.c.30229. PMID: 19876931Free PMC Article

Clinical prediction guides

Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
Radha Rama Devi A, Naushad SM, Lingappa L
Pediatr Neurol 2020 May;106:43-49. Epub 2020 Feb 4 doi: 10.1016/j.pediatrneurol.2020.01.012. PMID: 32139166
Prenatal diagnosis of Joubert syndrome: A case report and literature review.
Zhu L, Xie L
Medicine (Baltimore) 2017 Dec;96(51):e8626. doi: 10.1097/MD.0000000000008626. PMID: 29390414Free PMC Article
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM
Eur J Hum Genet 2013 Oct;21(10):1074-8. Epub 2013 Feb 6 doi: 10.1038/ejhg.2012.305. PMID: 23386033Free PMC Article
Self-reported sleep and breathing disturbances in Joubert syndrome.
Kamdar BB, Nandkumar P, Krishnan V, Gamaldo CE, Collop NA
Pediatr Neurol 2011 Dec;45(6):395-9. doi: 10.1016/j.pediatrneurol.2011.09.005. PMID: 22115003
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D
Am J Hum Genet 2008 Nov;83(5):559-71. Epub 2008 Oct 23 doi: 10.1016/j.ajhg.2008.10.002. PMID: 18950740Free PMC Article

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