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Joubert syndrome 36(JBTS36)

MedGen UID:
1684786
Concept ID:
C5231493
Disease or Syndrome
Synonym: JBTS36
 
Gene (location): FAM149B1 (10q22.2)
 
Monarch Initiative: MONDO:0032902
OMIM®: 618763

Definition

Joubert syndrome-36 (JBTS36) is an autosomal recessive ciliopathy characterized by global developmental delay, ocular movement abnormalities, and mesoaxial polydactyly. Brain imaging may be normal or show the classic 'molar tooth sign.' There is some phenotypic similarity to and overlap with orofaciodigital syndrome VI (OFD6; 277170) (summary by Shaheen et al., 2019). For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300). [from OMIM]

Clinical features

From HPO
Mesoaxial hand polydactyly
MedGen UID:
893020
Concept ID:
C4021606
Anatomical Abnormality
The presence of a supernumerary finger (not a thumb) involving the third or fourth metacarpal with associated osseous syndactyly.
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
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.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
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.
Open mouth
MedGen UID:
116104
Concept ID:
C0240379
Finding
A facial appearance characterized by a permanently or nearly permanently opened mouth.
Prominent forehead
MedGen UID:
373291
Concept ID:
C1837260
Finding
Forward prominence of the entire forehead, due to protrusion of the frontal bone.
Anteverted nares
MedGen UID:
326648
Concept ID:
C1840077
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
Highly arched eyebrow
MedGen UID:
358357
Concept ID:
C1868571
Finding
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
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

Juan Z, Cuixia G, Yuanjie C, Yan L, Ling Y, Tiejuan Z, Li W, Jijing H, Guohui Z, Yousheng Y, Qingqing W, Lijuan S
Eur J Med Res 2024 Jul 31;29(1):397. doi: 10.1186/s40001-024-01993-3. PMID: 39085968Free PMC Article
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
Yamasaki M, Nonaka M, Bamba Y, Teramoto C, Ban C, Pooh RK
Semin Fetal Neonatal Med 2012 Dec;17(6):330-5. Epub 2012 Oct 23 doi: 10.1016/j.siny.2012.07.004. PMID: 23089488

Recent clinical studies

Etiology

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
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
Shen O, Ben-Sira L, Rosenak D, Michaelson-Cohen R
Fetal Diagn Ther 2014;36(3):259-62. Epub 2014 May 28 doi: 10.1159/000358594. PMID: 24903086
Salman MS, Ikeda KM
Can J Neurol Sci 2013 Mar;40(2):235-40. doi: 10.1017/s0317167100013792. PMID: 23419574
Aslan H, Gungorduk K, Yildirim G, Olgac Y, Ceylan Y
J Clin Ultrasound 2008 Nov-Dec;36(9):576-80. doi: 10.1002/jcu.20491. PMID: 18454479

Diagnosis

Vrabič N, Fakin A, Tekavčič Pompe M
J Fr Ophtalmol 2024 Oct;47(8):104232. Epub 2024 Aug 29 doi: 10.1016/j.jfo.2024.104232. PMID: 39213781
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
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
Shen O, Ben-Sira L, Rosenak D, Michaelson-Cohen R
Fetal Diagn Ther 2014;36(3):259-62. Epub 2014 May 28 doi: 10.1159/000358594. PMID: 24903086
Aslan H, Gungorduk K, Yildirim G, Olgac Y, Ceylan Y
J Clin Ultrasound 2008 Nov-Dec;36(9):576-80. doi: 10.1002/jcu.20491. PMID: 18454479

Prognosis

Vrabič N, Fakin A, Tekavčič Pompe M
J Fr Ophtalmol 2024 Oct;47(8):104232. Epub 2024 Aug 29 doi: 10.1016/j.jfo.2024.104232. PMID: 39213781
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
Yamasaki M, Nonaka M, Bamba Y, Teramoto C, Ban C, Pooh RK
Semin Fetal Neonatal Med 2012 Dec;17(6):330-5. Epub 2012 Oct 23 doi: 10.1016/j.siny.2012.07.004. PMID: 23089488
Morava E, Dinopoulos A, Kroes HY, Rodenburg RJ, van Bokhoven H, van den Heuvel LP, Smeitink JA
Neuropediatrics 2005 Jun;36(3):214-7. doi: 10.1055/s-2005-865610. PMID: 15944909
Parisi MA, Dobyns WB
Mol Genet Metab 2003 Sep-Oct;80(1-2):36-53. doi: 10.1016/j.ymgme.2003.08.010. PMID: 14567956

Clinical prediction guides

Vrabič N, Fakin A, Tekavčič Pompe M
J Fr Ophtalmol 2024 Oct;47(8):104232. Epub 2024 Aug 29 doi: 10.1016/j.jfo.2024.104232. PMID: 39213781
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
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
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
Morava E, Dinopoulos A, Kroes HY, Rodenburg RJ, van Bokhoven H, van den Heuvel LP, Smeitink JA
Neuropediatrics 2005 Jun;36(3):214-7. doi: 10.1055/s-2005-865610. PMID: 15944909

Recent systematic reviews

Vrabič N, Fakin A, Tekavčič Pompe M
J Fr Ophtalmol 2024 Oct;47(8):104232. Epub 2024 Aug 29 doi: 10.1016/j.jfo.2024.104232. PMID: 39213781

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