Joubert Syndrome 5

Alternative Names

  • JBTS5

Associated Genes

Centrosomal Protein 290
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number

610188

Mode of Inheritance

Autosomal recessive

Gene Map Locus

12q21.32

Description

Joubert syndrome is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities. Neuroradiologically, Joubert syndrome is characterized by a peculiar malformation of the midbrain-hindbrain junction known as the 'molar tooth sign' (MTS) consisting of cerebellar vermis hypoplasia or aplasia, thick and maloriented superior cerebellar peduncles, and abnormally deep interpeduncular fossa.

The JBTS5 phenotype is mainly characterized by the neurologic and neuroradiologic features of Joubert syndrome associated with severe retinal and renal involvement. In addition, JBTS5 presents a broad clinical spectrum including incomplete phenotypes such as cerebelloretinal and cerebellorenal syndromes. The full-blown JBTS5 phenotype largely overlaps that of Senior-Loken syndrome (SLSN), which is characterized by retinitis pigmentosa plus juvenile nephronophthisis and is attributable to mutations in genes associated with nephronophthisis and encoding ciliary proteins. JBTS5 results from mutation of the CEP290 gene.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
610188.1Saudi ArabiaUnknownNoYes Renal cyst; Aplasia/Hypoplasia of the c...NM_025114.4:c.5668G>THomozygousAutosomal, RecessiveAl-Hamed et al. 2016
610188.2Saudi ArabiaUnknownYesYes Renal cystNM_025114.4:c.5668G>T, NM_025114.4:c.3775_3776delAGHomozygousAutosomal, RecessiveAl-Hamed et al. 2016 Has a similarly affe...
610188.3.1PalestineMaleYesYes Oculomotor apraxia; Neonatal hypotonia;...NM_025114.4:c.5824C>THomozygousAutosomal, RecessiveValente et al. 2006
610188.3.2PalestineMaleYesYes Oculomotor apraxia; Neonatal hypotonia;...NM_025114.4:c.5824C>THomozygousAutosomal, RecessiveValente et al. 2006 Sibling of 610188.3....
610188.4United Arab EmiratesFemaleYesYes Global developmental delay; Intellectual...NM_025114.3:c.4792_4795delHomozygousAutosomal, RecessiveSaleh et al. 2021 Affected sibling
610188.5Saudi ArabiaFemaleYes Generalized hypotonia; Global developmen...NM_025114.4:c.4714G>THomozygousAutosomal, RecessiveMaddirevula et al. 2018; Alazami et al. 2012
610188.6Saudi ArabiaFemaleYes Retinal dystrophy; Nephronophthisis; Mol...NM_025114.4:c.5668G>THomozygousAutosomal, RecessiveMaddirevula et al. 2018
610188.7Saudi ArabiaFemaleYesYes Global developmental delay; Molar tooth ...NM_025114.4:c.5668G>THomozygousAutosomal, RecessiveMaddirevula et al. 2018
610188.8Saudi ArabiaFemaleYesYes Global developmental delay; Molar tooth ...NM_025114.4:c.4714G>THomozygousAutosomal, RecessiveMaddirevula et al. 2018
610188.9United Arab EmiratesUnknown Molar tooth sign on MRINM_025114.4:c.5668G>THomozygousAutosomal, RecessiveBrancati et al. 2007
610188.10United Arab EmiratesUnknown Molar tooth sign on MRI; NephronophthisisNM_025114.4:c.5668G>THomozygousAutosomal, RecessiveBrancati et al. 2007
610188.11United Arab EmiratesUnknownYes Ataxia; Molar tooth sign on MRI; Global ...NM_025114.4:c.5668G>THomozygousAutosomal, RecessiveBen-Salem et al. 2014 Patient from 'JS_F11...
610189.12United Arab EmiratesUnknownYes Ataxia; Molar tooth sign on MRI; Global ...NM_025114.4:c.5668G>THomozygousAutosomal, RecessiveBen-Salem et al. 2014 Patient from 'MTI_58...
610190.13United Arab EmiratesUnknownYes Ataxia; Molar tooth sign on MRI; Global ...NM_025114.4:c.5668G>THomozygousAutosomal, RecessiveBen-Salem et al. 2014 Patient from 'MTI_01...
610190.G.1United Arab EmiratesUnknownNo Ataxia; Molar tooth sign on MRI; Global ...NM_025114.4:c.5668G>T, NM_025114.4:c.5932C>TCompound heterozygousAutosomal, RecessiveBen-Salem et al. 2014 Three patients from ...
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