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Joubert syndrome 33(JBTS33)

MedGen UID:
1615779
Concept ID:
C4540389
Disease or Syndrome
Synonyms: JBTS33; JOUBERT SYNDROME 33
 
Gene (location): PIBF1 (13q21.33-22.1)
 
Monarch Initiative: MONDO:0033311
OMIM®: 617767

Definition

Joubert syndrome (JBTS) represents a classic ciliopathy characterized by hypotonia, ataxia, cognitive impairment, and a distinctive brain malformation, the 'molar tooth sign.' In addition, retinal dystrophy, cystic kidney disease, liver fibrosis, and polydactyly occur in a subset of patients (summary by Wheway et al., 2015). For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300). [from OMIM]

Clinical features

From HPO
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
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).
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.
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.
Delayed CNS myelination
MedGen UID:
867393
Concept ID:
C4021758
Anatomical Abnormality
Delayed myelination in the central nervous system.
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.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Apnea
MedGen UID:
2009
Concept ID:
C0003578
Sign or Symptom
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
Cone-rod dystrophy
MedGen UID:
896366
Concept ID:
C4085590
Disease or Syndrome
The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).\n\nThere are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nCone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.

Professional guidelines

PubMed

Itoh M, Iwasaki Y, Ohno K, Inoue T, Hayashi M, Ito S, Matsuzaka T, Ide S, Arima M
Brain Dev 2014 May;36(5):388-93. Epub 2013 Jul 8 doi: 10.1016/j.braindev.2013.06.005. PMID: 23845172
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

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
Zhu T, Shen Y, Sun Z, Han X, Wei X, Li W, Lu C, Cheng T, Zou X, Li H, Cao Z, Gao H, Ma X, Luo M, Sui R
Am J Ophthalmol 2023 Apr;248:96-106. Epub 2022 Dec 7 doi: 10.1016/j.ajo.2022.11.023. PMID: 36493848
Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C; Care4Rare Canada Consortium, Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL
Am J Hum Genet 2015 Nov 5;97(5):744-53. Epub 2015 Oct 17 doi: 10.1016/j.ajhg.2015.09.009. PMID: 26477546Free PMC Article
Salman MS, Ikeda KM
Can J Neurol Sci 2013 Mar;40(2):235-40. doi: 10.1017/s0317167100013792. PMID: 23419574
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

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
Zhu T, Shen Y, Sun Z, Han X, Wei X, Li W, Lu C, Cheng T, Zou X, Li H, Cao Z, Gao H, Ma X, Luo M, Sui R
Am J Ophthalmol 2023 Apr;248:96-106. Epub 2022 Dec 7 doi: 10.1016/j.ajo.2022.11.023. PMID: 36493848
Zhu H, Chen W, Ren H, Zhang Y, Niu Y, Wu D, Jiang L
Eur J Med Genet 2021 Jun;64(6):104212. Epub 2021 Mar 30 doi: 10.1016/j.ejmg.2021.104212. PMID: 33794348
Itoh M, Iwasaki Y, Ohno K, Inoue T, Hayashi M, Ito S, Matsuzaka T, Ide S, Arima M
Brain Dev 2014 May;36(5):388-93. Epub 2013 Jul 8 doi: 10.1016/j.braindev.2013.06.005. PMID: 23845172
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

Therapy

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

Zhang YW, Qu HB, Long N, Leng XY, Liu YQ, Yang Y
Mol Genet Genomics 2021 Jan;296(1):33-40. Epub 2020 Sep 18 doi: 10.1007/s00438-020-01726-1. PMID: 32944789
Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C; Care4Rare Canada Consortium, Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL
Am J Hum Genet 2015 Nov 5;97(5):744-53. Epub 2015 Oct 17 doi: 10.1016/j.ajhg.2015.09.009. PMID: 26477546Free PMC Article

Clinical prediction guides

Satoda Y, Noguchi T, Fujii T, Taniguchi A, Katoh Y, Nakayama K
Mol Biol Cell 2022 Aug 1;33(9):ar79. Epub 2022 May 24 doi: 10.1091/mbc.E22-03-0089. PMID: 35609210Free PMC Article
Zhang YW, Qu HB, Long N, Leng XY, Liu YQ, Yang Y
Mol Genet Genomics 2021 Jan;296(1):33-40. Epub 2020 Sep 18 doi: 10.1007/s00438-020-01726-1. PMID: 32944789
Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C; Care4Rare Canada Consortium, Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL
Am J Hum Genet 2015 Nov 5;97(5):744-53. Epub 2015 Oct 17 doi: 10.1016/j.ajhg.2015.09.009. PMID: 26477546Free PMC Article
Pastora N, Peralta J, Canal-Fontcuberta I, Grabowska A, Pulido JS, Abelairas J, Armada F, Garcia-Alix A
Ophthalmic Genet 2012 Jun;33(2):116-8. Epub 2012 Mar 15 doi: 10.3109/13816810.2011.626012. PMID: 22420539

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