Joubert Syndrome 16

Alternative Names

  • JBTS16
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number

614465

Mode of Inheritance

Autosomal recessive

Gene Map Locus

11q12.2

Description

Joubert syndrome (JS) is an inherited multi-visceral disorder caused by aberrant primary cilia formation and function.  JS is characterized by the Molar Tooth Sign (MTS), a mid-hindbrain malformation easily identifiable through an axial brain MRI scan.  Neurological features include hypotonia, ataxia, and cognitive impairment.  The clinical phenotype additionally includes retinal, renal, hepatic -and more rarely- orofacial, skeletal, cardiac, genital, and endocrinal defects.  JS affects 1 in 1,000,000 births; however the incidence in consanguineous populations is thought to be much higher (e.g. ~1 in 5000 for UAE).

JS16 (JBTS16) is a subtype of JS very similar to JBTS2, involving characteristic neurological features with mainly ocular involvement; renal, skeletal (polydactyly), and genital (cryptorchidism) defects are additional albeit relatively rarely reported features.  The ocular phenotype involves retinal dystrophy, oculomotor apraxia, reduced visual acuity, as well as chorioretinal and optic nerve coloboma.  Renal involvement include cystic kidneys, nephronophthisis and nephrocalcinosis.

JBTS16 is an autosomal recessive disorder caused by homozygous mutations in TMEM138, a ciliary gene involved in trafficking intracellular vesicles containing essential proteins to the cilium.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
614465.1.1United Arab EmiratesFemaleYesYes Oculomotor apraxia; Chorioretinal colob...NM_016464.5:c.128+5G>AHomozygousAutosomal, RecessiveBen-Salem et al. 2014; Lee et al. 2012
614465.1.2United Arab EmiratesFemaleYesYes Oculomotor apraxia; Chorioretinal colob...NM_016464.5:c.128+5G>AHomozygousAutosomal, RecessiveBen-Salem et al. 2014; Lee et al. 2012 Sibling of 614465.1....
614465.2.1United Arab EmiratesFemaleYesYes Oculomotor apraxia; Chorioretinal colob...NM_016464.5:c.128+5G>AHomozygousAutosomal, RecessiveBen-Salem et al. 2014; Lee et al. 2012
614465.2.2United Arab EmiratesMaleYesYes PolydactylyNM_016464.5:c.128+5G>AHomozygousAutosomal, RecessiveBen-Salem et al. 2014; Lee et al. 2012 Sibling of 614465.2....
614465.2.3United Arab EmiratesMaleYesYes Death in childhoodNM_016464.5:c.128+5G>AHomozygousAutosomal, RecessiveBen-Salem et al. 2014; Lee et al. 2012 Sibling of 614465.2....
614465.3.1United Arab EmiratesMaleYesYes Retinal dystrophyNM_016464.5:c.380C>THomozygousAutosomal, RecessiveBen-Salem et al. 2014; Lee et al. 2012
614465.3.2United Arab EmiratesMaleYesYes Retinal dystrophyNM_016464.5:c.380C>THomozygousAutosomal, RecessiveBen-Salem et al. 2014; Lee et al. 2012 Sibling of 614465.3....
614465.3.3United Arab EmiratesMaleYesYes Retinal dystrophyNM_016464.5:c.380C>THomozygousAutosomal, RecessiveBen-Salem et al. 2014; Lee et al. 2012 Sibling of 614465.3....
614465.4EgyptMaleYesYes Oculomotor apraxiaNM_016464.5:c.376G>AHomozygousAutosomal, RecessiveLee et al. 2012
614465.5OmanFemaleYesYes Oculomotor apraxia; Chorioretinal colob...NM_016464.5:c.389A>GHomozygousAutosomal, RecessiveLee et al. 2012 6 affected siblings ...
614465.6EgyptMaleYesYes Oculomotor apraxia; Chorioretinal colob...NM_016464.5:c.376G>AHomozygousAutosomal, RecessiveLee et al. 2012
614465.7United Arab EmiratesUnknownYesNM_016464.5:c.389A>GHomozygousAutosomal, RecessiveBen-Salem et al. 2014
614465.8United Arab EmiratesUnknownYesNM_016464.5:c.389A>GHomozygousAutosomal, RecessiveBen-Salem et al. 2014
614465.9.1United Arab EmiratesMaleYesYes Persistent open anterior fontanelle; Ny...NM_016464.5:c.128+5G>AHomozygousAutosomal, RecessiveBizzari et al. 2017 Has a similarly affe...
614465.10.1SyriaFemaleYesYes Abnormality of eye movement; Global deve...NM_016464.5:c.377-3C>GHomozygousAutosomal, RecessiveMaddirevula et al. 2018
614465.10.2SyriaMaleYesYes Abnormality of eye movement; Global deve...NM_016464.5:c.377-3C>GHomozygousAutosomal, RecessiveMaddirevula et al. 2018 Relative of 614465.1...
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