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Joubert syndrome with ocular defect

MedGen UID:
909607
•Concept ID:
C4274118
•
Disease or Syndrome
Synonyms: JBTS3; Joubert syndrome 3; Joubert syndrome with ocular anomalies; Joubert syndrome with retinopathy; JS-O
SNOMED CT: Joubert syndrome with ocular defect (716998009); Joubert syndrome with retinopathy (716998009)
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).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016364
Orphanet: ORPHA220493

Definition

The most frequent subtype of Joubert syndrome with manifestation of neurological features of Joubert Syndrome associated with retinal dystrophy. Prevalence is unknown. Age of onset and severity of retinal involvement are variable, ranging from congenital to progressive retinopathy with partial conservation of vision. To date, the most frequently mutated gene in this subtype is AHI1 (6q23.2), which accounts for about 20% of cases, following autosomal recessive inheritance. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Joubert syndrome with ocular defect

Professional guidelines

PubMed

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.
Brooks BP, Zein WM, Thompson AH, Mokhtarzadeh M, Doherty DA, Parisi M, Glass IA, Malicdan MC, Vilboux T, Vemulapalli M, Mullikin JC, Gahl WA, Gunay-Aygun M
Ophthalmology 2018 Dec;125(12):1937-1952. Epub 2018 Jul 25 doi: 10.1016/j.ophtha.2018.05.026. PMID: 30055837Free PMC Article
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
Clinical features and revised diagnostic criteria in Joubert syndrome.
Maria BL, Boltshauser E, Palmer SC, Tran TX
J Child Neurol 1999 Sep;14(9):583-90; discussion 590-1. doi: 10.1177/088307389901400906. PMID: 10488903

Recent clinical studies

Etiology

Visual function in children with Joubert syndrome.
Morelli F, Toni F, Saligari E, D'Abrusco F, Serpieri V, Ballante E, Ruberto G, Borgatti R, Valente EM, Signorini S; Developmental Neuro-ophthalmology Study Group
Dev Med Child Neurol 2024 Mar;66(3):379-388. Epub 2023 Aug 18 doi: 10.1111/dmcn.15732. PMID: 37593819
Characteristics and Outcomes of Idiopathic and Non-idiopathic Ocular Motor Apraxia in Children.
Chang MY, Grosrenaud P, Borchert MS
J Pediatr Ophthalmol Strabismus 2022 Sep-Oct;59(5):326-331. Epub 2022 Feb 22 doi: 10.3928/01913913-20220106-01. PMID: 35192381Free PMC Article
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group
J Med Genet 2022 Sep;59(9):888-894. Epub 2021 Oct 21 doi: 10.1136/jmedgenet-2021-108114. PMID: 34675124Free PMC Article
The syndrome of infantile-onset saccade initiation delay.
Salman MS, Ikeda KM
Can J Neurol Sci 2013 Mar;40(2):235-40. doi: 10.1017/s0317167100013792. PMID: 23419574
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

Diagnosis

Visual function in children with Joubert syndrome.
Morelli F, Toni F, Saligari E, D'Abrusco F, Serpieri V, Ballante E, Ruberto G, Borgatti R, Valente EM, Signorini S; Developmental Neuro-ophthalmology Study Group
Dev Med Child Neurol 2024 Mar;66(3):379-388. Epub 2023 Aug 18 doi: 10.1111/dmcn.15732. PMID: 37593819
Characteristics and Outcomes of Idiopathic and Non-idiopathic Ocular Motor Apraxia in Children.
Chang MY, Grosrenaud P, Borchert MS
J Pediatr Ophthalmol Strabismus 2022 Sep-Oct;59(5):326-331. Epub 2022 Feb 22 doi: 10.3928/01913913-20220106-01. PMID: 35192381Free PMC Article
An elusive ciliopathy: Joubert syndrome.
Canepa C, Burton B, Muhith A
BMJ Case Rep 2017 Jun 29;2017 doi: 10.1136/bcr-2017-220459. PMID: 28667057Free PMC Article
Joubert syndrome: congenital cerebellar ataxia with the molar tooth.
Romani M, Micalizzi A, Valente EM
Lancet Neurol 2013 Sep;12(9):894-905. Epub 2013 Jul 17 doi: 10.1016/S1474-4422(13)70136-4. PMID: 23870701Free PMC Article
Case 25: Joubert syndrome.
van Beek EJ, Majoie CB
Radiology 2000 Aug;216(2):379-82. doi: 10.1148/radiology.216.2.r00au34379. PMID: 10924557

Therapy

Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.
Brooks BP, Zein WM, Thompson AH, Mokhtarzadeh M, Doherty DA, Parisi M, Glass IA, Malicdan MC, Vilboux T, Vemulapalli M, Mullikin JC, Gahl WA, Gunay-Aygun M
Ophthalmology 2018 Dec;125(12):1937-1952. Epub 2018 Jul 25 doi: 10.1016/j.ophtha.2018.05.026. PMID: 30055837Free PMC Article
Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center.
Strongin A, Heller T, Doherty D, Glass IA, Parisi MA, Bryant J, Choyke P, Turkbey B, Daryanani K, Yildirimli D, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Gahl WA, Gunay-Aygun M; NISC Comparative Sequencing Program
J Pediatr Gastroenterol Nutr 2018 Mar;66(3):428-435. doi: 10.1097/MPG.0000000000001816. PMID: 29112083Free PMC Article
Neuroleptic malignant syndrome due to risperidone treatment in a child with Joubert syndrome.
Vurucu S, Congologlu A, Altun D, Unay B, Akin R
J Natl Med Assoc 2009 Mar;101(3):273-5. doi: 10.1016/s0027-9684(15)30858-0. PMID: 19331262
Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.
Maria BL, Quisling RG, Rosainz LC, Yachnis AT, Gitten J, Dede D, Fennell E
J Child Neurol 1999 Jun;14(6):368-76. doi: 10.1177/088307389901400605. PMID: 10385844

Prognosis

SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group
J Med Genet 2022 Sep;59(9):888-894. Epub 2021 Oct 21 doi: 10.1136/jmedgenet-2021-108114. PMID: 34675124Free PMC Article
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
Parenting stress and its relationship to the behavior of children with Joubert syndrome.
Farmer JE, Deidrick KM, Gitten JC, Fennell EB, Maria BL
J Child Neurol 2006 Feb;21(2):163-7. doi: 10.1177/08830738060210020401. PMID: 16566885
Follow-up in children with Joubert syndrome.
Steinlin M, Schmid M, Landau K, Boltshauser E
Neuropediatrics 1997 Aug;28(4):204-11. doi: 10.1055/s-2007-973701. PMID: 9309710

Clinical prediction guides

Primary cilia formation requires the Leigh syndrome-associated mitochondrial protein NDUFAF2.
Lo CH, Liu Z, Chen S, Lin F, Berneshawi AR, Yu CQ, Koo EB, Kowal TJ, Ning K, Hu Y, Wang WJ, Liao YJ, Sun Y
J Clin Invest 2024 Jul 1;134(13) doi: 10.1172/JCI175560. PMID: 38949024Free PMC Article
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Schröder S, Yigit G, Li Y, Altmüller J, Büttel HM, Fiedler B, Kretzschmar C, Nürnberg P, Seeger J, Serpieri V, Valente EM, Wollnik B, Boltshauser E, Brockmann K
Orphanet J Rare Dis 2023 May 2;18(1):101. doi: 10.1186/s13023-023-02706-5. PMID: 37131188Free PMC Article
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group
J Med Genet 2022 Sep;59(9):888-894. Epub 2021 Oct 21 doi: 10.1136/jmedgenet-2021-108114. PMID: 34675124Free PMC Article
Nosological delineation of congenital ocular motor apraxia type Cogan: an observational study.
Wente S, Schröder S, Buckard J, Büttel HM, von Deimling F, Diener W, Häussler M, Hübschle S, Kinder S, Kurlemann G, Kretzschmar C, Lingen M, Maroske W, Mundt D, Sánchez-Albisua I, Seeger J, Toelle SP, Boltshauser E, Brockmann K
Orphanet J Rare Dis 2016 Jul 29;11(1):104. doi: 10.1186/s13023-016-0486-z. PMID: 27473762Free PMC Article
Clinical nosologic and genetic aspects of Joubert and related syndromes.
Chance PF, Cavalier L, Satran D, Pellegrino JE, Koenig M, Dobyns WB
J Child Neurol 1999 Oct;14(10):660-6; discussion 669-72. doi: 10.1177/088307389901401007. PMID: 10511339

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