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Joubert syndrome 25(JBTS25)

MedGen UID:
895764
•Concept ID:
C4084842
•
Disease or Syndrome
Synonym: JBTS25
 
Gene (location): CEP104 (1p36.32)
 
Monarch Initiative: MONDO:0014770
OMIM®: 616781

Authors:

Additional description

From OMIM
Joubert syndrome-25 is an autosomal recessive ciliopathy characterized by delayed psychomotor development and oculomotor apraxia associated with cerebellar hypoplasia manifest as the molar tooth sign on brain imaging. The clinical manifestations appear to be confined to the neurologic system, as patients tend not to have additional renal, liver, or limb involvement (summary by Srour et al., 2015) For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300.  http://www.omim.org/entry/616781

Clinical features

From HPO
Cerebellar ataxia
MedGen UID:
849
•Concept ID:
C0007758
•
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
See: Feature record | Search on this feature
Cerebellar hypoplasia
MedGen UID:
120578
•Concept ID:
C0266470
•
Congenital Abnormality
Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
See: Feature record | Search on this feature
Global developmental delay
MedGen UID:
107838
•Concept ID:
C0557874
•
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
See: Feature record | Search on this feature
Molar tooth sign on MRI
MedGen UID:
400670
•Concept ID:
C1865060
•
Finding
An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.
See: Feature record | Search on this feature
Oculomotor apraxia
MedGen UID:
483686
•Concept ID:
C3489733
•
Disease or Syndrome
Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex.
See: Feature record | Search on this feature
Generalized hypotonia
MedGen UID:
346841
•Concept ID:
C1858120
•
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
See: Feature record | Search on this feature
Abnormal electroretinogram
MedGen UID:
96908
•Concept ID:
C0476397
•
Finding
Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
Tang X, Liu C, Liu X, Chen J, Fan X, Liu J, Ma D, Cao G, Chen Z, Xu D, Zhu Y, Jiang X, Cheng L, Wu Y, Hou L, Li Y, Shao X, Zheng S, Zhang A, Zheng B, Jian S, Rong Z, Su Q, Gao X, Rao J, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD); “Internet Plus” Nephrology Alliance of the National Center for Children’s Care
J Med Genet 2022 Feb;59(2):147-154. Epub 2020 Dec 15 doi: 10.1136/jmedgenet-2020-107184. PMID: 33323469
Any modality of renal replacement therapy can be a treatment option for Joubert syndrome.
Takagi Y, Miura K, Yabuuchi T, Kaneko N, Ishizuka K, Takei M, Yajima C, Ikeuchi Y, Kobayashi Y, Takizawa T, Hisano M, Tsurusaki Y, Matsumoto N, Hattori M
Sci Rep 2021 Jan 11;11(1):462. doi: 10.1038/s41598-020-80712-4. PMID: 33432080Free PMC Article

Recent clinical studies

Etiology

Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
Tang X, Liu C, Liu X, Chen J, Fan X, Liu J, Ma D, Cao G, Chen Z, Xu D, Zhu Y, Jiang X, Cheng L, Wu Y, Hou L, Li Y, Shao X, Zheng S, Zhang A, Zheng B, Jian S, Rong Z, Su Q, Gao X, Rao J, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD); “Internet Plus” Nephrology Alliance of the National Center for Children’s Care
J Med Genet 2022 Feb;59(2):147-154. Epub 2020 Dec 15 doi: 10.1136/jmedgenet-2020-107184. PMID: 33323469
KIAA0586 is Mutated in Joubert Syndrome.
Bachmann-Gagescu R, Phelps IG, Dempsey JC, Sharma VA, Ishak GE, Boyle EA, Wilson M, Marques Lourenço C, Arslan M; University of Washington Center for Mendelian Genomics, Shendure J, Doherty D
Hum Mutat 2015 Sep;36(9):831-5. Epub 2015 Jul 2 doi: 10.1002/humu.22821. PMID: 26096313Free PMC Article
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D
J Med Genet 2015 Aug;52(8):514-22. Epub 2015 Jun 19 doi: 10.1136/jmedgenet-2015-103087. PMID: 26092869Free 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

Diagnosis

Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
KIAA0586 is Mutated in Joubert Syndrome.
Bachmann-Gagescu R, Phelps IG, Dempsey JC, Sharma VA, Ishak GE, Boyle EA, Wilson M, Marques Lourenço C, Arslan M; University of Washington Center for Mendelian Genomics, Shendure J, Doherty D
Hum Mutat 2015 Sep;36(9):831-5. Epub 2015 Jul 2 doi: 10.1002/humu.22821. PMID: 26096313Free PMC Article
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D
J Med Genet 2015 Aug;52(8):514-22. Epub 2015 Jun 19 doi: 10.1136/jmedgenet-2015-103087. PMID: 26092869Free 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
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

Anesthetic management of an infant with Joubert syndrome for cardiac surgery.
Bhaskar P, John J, Sivamurthy SK, Lone RA, Tysarowski PA, Riyas MK, Syed SA, Bhat AN, Sallehuddin A
J Clin Anesth 2013 Sep;25(6):488-90. Epub 2013 Aug 17 doi: 10.1016/j.jclinane.2013.02.013. PMID: 23965207
Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders.
Saleem SN, Zaki MS
AJNR Am J Neuroradiol 2010 Mar;31(3):424-9. Epub 2009 Nov 26 doi: 10.3174/ajnr.A1867. PMID: 19942698Free PMC Article

Prognosis

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
Diagnosis of Joubert syndrome via ultrasonography.
Buke B, Canverenler E, İpek G, Canverenler S, Akkaya H
J Med Ultrason (2001) 2017 Apr;44(2):197-202. Epub 2016 Oct 26 doi: 10.1007/s10396-016-0751-8. PMID: 27785575
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
Rhombencephalosynapsis in a severely polymalformed fetus with non-mosaic tetrasomy 9p, in intracytoplasmic-sperm-injection pregnancy.
di Vera E, Liberati M, Celentano C, Calabrese G, Guanciali-Franchi PE, Morizio E, Rotmensch S
J Assist Reprod Genet 2008 Nov-Dec;25(11-12):577-80. Epub 2008 Oct 25 doi: 10.1007/s10815-008-9257-7. PMID: 18953648Free PMC Article
Diffusion-tensor MR imaging and fiber tractography: a new method of describing aberrant fiber connections in developmental CNS anomalies.
Lee SK, Kim DI, Kim J, Kim DJ, Kim HD, Kim DS, Mori S
Radiographics 2005 Jan-Feb;25(1):53-65; discussion 66-8. doi: 10.1148/rg.251045085. PMID: 15653586

Clinical prediction guides

Fetal ciliopathies: a retrospective observational single-center study.
Simonini C, Floeck A, Strizek B, Mueller A, Gembruch U, Geipel A
Arch Gynecol Obstet 2022 Jul;306(1):71-83. Epub 2021 Oct 1 doi: 10.1007/s00404-021-06265-7. PMID: 34596737Free PMC Article
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.
Tang X, Liu C, Liu X, Chen J, Fan X, Liu J, Ma D, Cao G, Chen Z, Xu D, Zhu Y, Jiang X, Cheng L, Wu Y, Hou L, Li Y, Shao X, Zheng S, Zhang A, Zheng B, Jian S, Rong Z, Su Q, Gao X, Rao J, Shen Q, Xu H; Chinese Children Genetic Kidney Disease Database (CCGKDD); “Internet Plus” Nephrology Alliance of the National Center for Children’s Care
J Med Genet 2022 Feb;59(2):147-154. Epub 2020 Dec 15 doi: 10.1136/jmedgenet-2020-107184. PMID: 33323469
Any modality of renal replacement therapy can be a treatment option for Joubert syndrome.
Takagi Y, Miura K, Yabuuchi T, Kaneko N, Ishizuka K, Takei M, Yajima C, Ikeuchi Y, Kobayashi Y, Takizawa T, Hisano M, Tsurusaki Y, Matsumoto N, Hattori M
Sci Rep 2021 Jan 11;11(1):462. doi: 10.1038/s41598-020-80712-4. PMID: 33432080Free PMC Article
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
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M; University of Washington Center for Mendelian Genomics, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D
J Med Genet 2015 Aug;52(8):514-22. Epub 2015 Jun 19 doi: 10.1136/jmedgenet-2015-103087. PMID: 26092869Free PMC Article

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