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Joubert syndrome 31(JBTS31)

MedGen UID:
1618082
Concept ID:
C4540355
Disease or Syndrome
Synonyms: JBTS31; JOUBERT SYNDROME 31
 
Gene (location): CEP120 (5q23.2)
 
Monarch Initiative: MONDO:0033310
OMIM®: 617761

Disease characteristics

Excerpted from the GeneReview: Joubert Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen. [from GeneReviews]
Authors:
Melissa Parisi  |  Ian Glass   view full author information

Clinical features

From HPO
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
Truncal ataxia
MedGen UID:
96535
Concept ID:
C0427190
Sign or Symptom
Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.
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.
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.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
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.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Duane retraction syndrome
MedGen UID:
4413
Concept ID:
C0013261
Disease or Syndrome
Duane syndrome is a strabismus condition clinically characterized by congenital non-progressive limited horizontal eye movement accompanied by globe retraction which results in narrowing of the palpebral fissure. The lateral movement anomaly results from failure of the abducens nucleus and nerve (cranial nerve VI) to fully innervate the lateral rectus muscle; globe retraction occurs as a result of abnormal innervation of the lateral rectus muscle by the oculomotor nerve (cranial nerve III). At birth, affected infants have restricted ability to move the affected eye(s) outward (abduction) and/or inward (adduction), though the limitations may not be recognized in early infancy. In addition, the globe retracts into the orbit with attempted adduction, accompanied by narrowing of the palpebral fissure. Many individuals with Duane syndrome have strabismus in primary gaze but can use a compensatory head turn to align the eyes, and thus can preserve binocular vision and avoid diplopia. Individuals with Duane syndrome who lack binocular vision are at risk for amblyopia. The majority of affected individuals with Duane syndrome have isolated Duane syndrome (i.e., they do not have other detected congenital anomalies). Other individuals with Duane syndrome fall into well-defined syndromic diagnoses. However, many individuals with Duane syndrome have non-ocular findings that do not fit a known syndrome; these individuals are included as part of the discussion of nonsyndromic Duane syndrome.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

Professional guidelines

PubMed

Coppieters F, Casteels I, Meire F, De Jaegere S, Hooghe S, van Regemorter N, Van Esch H, Matuleviciene A, Nunes L, Meersschaut V, Walraedt S, Standaert L, Coucke P, Hoeben H, Kroes HY, Vande Walle J, de Ravel T, Leroy BP, De Baere E
Hum Mutat 2010 Oct;31(10):E1709-66. doi: 10.1002/humu.21336. PMID: 20683928Free PMC Article
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

Recent clinical studies

Etiology

Nuovo S, Bacigalupo I, Ginevrino M, Battini R, Bertini E, Borgatti R, Casella A, Micalizzi A, Nardella M, Romaniello R, Serpieri V, Zanni G, Valente EM, Vanacore N; JS Italian Study Group
Neurology 2020 Feb 25;94(8):e797-e801. Epub 2020 Jan 22 doi: 10.1212/WNL.0000000000008996. PMID: 31969461Free PMC Article
Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M
Clin J Am Soc Nephrol 2017 Dec 7;12(12):1962-1973. Epub 2017 Nov 16 doi: 10.2215/CJN.05660517. PMID: 29146704Free PMC Article
İncecik F, Hergüner MÖ, Altunbaşak Ş, Gleeson JG
Turk J Pediatr 2012 Nov-Dec;54(6):605-11. PMID: 23692786Free PMC Article
Coppieters F, Lefever S, Leroy BP, De Baere E
Hum Mutat 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337. PMID: 20690115
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

Diagnosis

Nuovo S, Bacigalupo I, Ginevrino M, Battini R, Bertini E, Borgatti R, Casella A, Micalizzi A, Nardella M, Romaniello R, Serpieri V, Zanni G, Valente EM, Vanacore N; JS Italian Study Group
Neurology 2020 Feb 25;94(8):e797-e801. Epub 2020 Jan 22 doi: 10.1212/WNL.0000000000008996. PMID: 31969461Free PMC Article
İncecik F, Hergüner MÖ, Altunbaşak Ş, Gleeson JG
Turk J Pediatr 2012 Nov-Dec;54(6):605-11. PMID: 23692786Free PMC Article
Singh J, Gathwala G, Agarwal S, Monika, Vaswani ND
J Indian Med Assoc 2011 May;109(5):348-9. PMID: 22187775
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
McPherson E, Zaleski C, Mascola M
Am J Med Genet A 2006 Oct 1;140(19):2146-9. doi: 10.1002/ajmg.a.31406. PMID: 16906567

Therapy

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

Chen C, Gao J, Lv Q, Xu C, Xia Y, Du A
BMC Med Genomics 2021 Oct 9;14(1):242. doi: 10.1186/s12920-021-01089-5. PMID: 34627237Free PMC Article
Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M
Clin J Am Soc Nephrol 2017 Dec 7;12(12):1962-1973. Epub 2017 Nov 16 doi: 10.2215/CJN.05660517. PMID: 29146704Free PMC Article
İncecik F, Hergüner MÖ, Altunbaşak Ş, Gleeson JG
Turk J Pediatr 2012 Nov-Dec;54(6):605-11. PMID: 23692786Free PMC Article
Webb TR, Parfitt DA, Gardner JC, Martinez A, Bevilacqua D, Davidson AE, Zito I, Thiselton DL, Ressa JH, Apergi M, Schwarz N, Kanuga N, Michaelides M, Cheetham ME, Gorin MB, Hardcastle AJ
Hum Mol Genet 2012 Aug 15;21(16):3647-54. Epub 2012 May 22 doi: 10.1093/hmg/dds194. PMID: 22619378Free PMC Article
Coppieters F, Lefever S, Leroy BP, De Baere E
Hum Mutat 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337. PMID: 20690115

Clinical prediction guides

Chen C, Gao J, Lv Q, Xu C, Xia Y, Du A
BMC Med Genomics 2021 Oct 9;14(1):242. doi: 10.1186/s12920-021-01089-5. PMID: 34627237Free PMC Article
Fleming LR, Doherty DA, Parisi MA, Glass IA, Bryant J, Fischer R, Turkbey B, Choyke P, Daryanani K, Vemulapalli M, Mullikin JC, Malicdan MC, Vilboux T, Sayer JA, Gahl WA, Gunay-Aygun M
Clin J Am Soc Nephrol 2017 Dec 7;12(12):1962-1973. Epub 2017 Nov 16 doi: 10.2215/CJN.05660517. PMID: 29146704Free PMC Article
İncecik F, Hergüner MÖ, Altunbaşak Ş, Gleeson JG
Turk J Pediatr 2012 Nov-Dec;54(6):605-11. PMID: 23692786Free PMC Article
Coppieters F, Lefever S, Leroy BP, De Baere E
Hum Mutat 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337. PMID: 20690115
Kendall B, Kingsley D, Lambert SR, Taylor D, Finn P
Neuroradiology 1990;31(6):502-6. doi: 10.1007/BF00340131. PMID: 2352633

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