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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

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Joubert syndrome and related disorders.
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Joubert syndrome and related disorders.
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Neurol Neurochir Pol 2012 Jul-Aug;46(4):379-83. doi: 10.5114/ninp.2012.30457. PMID: 23023437
Joubert Syndrome and related disorders.
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Genotypes and phenotypes of Joubert syndrome and related disorders.
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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

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.
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Joubert Syndrome and related disorders.
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Genotypes and phenotypes of Joubert syndrome and related disorders.
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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

Therapy

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Mutations in CSPP1 lead to classical Joubert syndrome.
Akizu N, Silhavy JL, Rosti RO, Scott E, Fenstermaker AG, Schroth J, Zaki MS, Sanchez H, Gupta N, Kabra M, Kara M, Ben-Omran T, Rosti B, Guemez-Gamboa A, Spencer E, Pan R, Cai N, Abdellateef M, Gabriel S, Halbritter J, Hildebrandt F, van Bokhoven H, Gunel M, Gleeson JG
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Clinical and molecular features of Joubert syndrome and related disorders.
Parisi MA
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Clinical prediction guides

Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.
Radha Rama Devi A, Naushad SM, Lingappa L
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Prenatal diagnosis of Joubert syndrome: A case report and literature review.
Zhu L, Xie L
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Joubert syndrome and related disorders: a rare cause of intrahepatic portal hypertension in childhood.
Usta M, Urganci N, Özçelik G, Çetinçelik Ü, Kafadar I, Özgüven BY
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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.
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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

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