Jalili Syndrome

Alternative Names

  • Cone-Rod Dystrophy and Amelogenesis Imperfecta

Associated Genes

Cyclin M4
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

217080

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2q11.2

Description

Jalili syndrome is a genetic disorder characterised by comorbid occurrence of cone-rod dystrophy and amelogenesis imperfecta (abnormality in enamel formation). Cone-rod dystrophy often leads to vision loss due to deterioration of cones and rods present in the retina. Abnormality in skin pigmentation ; involuntary, rhythmic movements of the eyes (nystagmus); and sensitivity to light (photophobia) has also been reported in patients with Jalili syndrome. It is known to be linked to chromosomal region 2q11 and homozygous or compound heterozygous mutations in CNNM4 gene.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
217080.1.1LebanonFemaleYesYes Pendular nystagmus; Photophobia; Nycta...NM_020184.3:c.707G>AHomozygousAutosomal, RecessivePolok et al. 2009 Proband from 'Family...
217080.1.2LebanonFemaleYesYes Pendular nystagmus; Photophobia; Nyc...NM_020184.3:c.707G>AHomozygousAutosomal, RecessivePolok et al. 2009 Sister of 217080.1.1
217080.1.5LebanonMaleYesYes Pendular nystagmus; Photophobia; Nyc...NM_020184.3:c.707G>AHomozygousAutosomal, RecessivePolok et al. 2009 Maternal cousin of 2...
217080.2PalestineMale Pendular nystagmus; Photophobia; Nycta...NM_020184.3:c.599C>AAutosomal, RecessiveJalili, 2010 Singleton C' in the ...
217080.3United Arab EmiratesMaleYes Photophobia; Visual impairment; Rod-cone...NM_020184.3:c.509T>CHomozygousAutosomal, RecessiveKhan. 2020
217080.G.1PalestineUnknownYesYes Cone/cone-rod dystrophy; Amelogenesis ...NM_020184.3:c.599C>AHomozygousAutosomal, RecessiveParry et al. 2009 Unknown number of pa...
217080.G.2PalestineUnknownYesYes Cone/cone-rod dystrophy; Amelogenesis...NM_020184.3:c.1813C>THomozygousAutosomal, RecessiveParry et al. 2009 3 patients from fami...
217080.G.3QatarUnknownYesYes Visual impairment; Cone/cone-rod dystro...NM_020184.3:c.509T>CHomozygousAutosomal, RecessivePatel et al, 2018 2 members of a famil...

Other Reports

Egypt

[See: Palestine > Jalili, 2010].

Palestine

Jalili and Smith (1988) reported 29 cases of cone-rod dystrophy co-occuring with amelogenesis imperfecta in an Arab family from Gaza Strip. While studying seven generations of this family, wherein 13 marriages were consanguineous, an autosomal recessive inheritance pattern was observed.

Saudi Arabia

[See: Palestine > Jalili and Smith, 1988].

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