Cohen Syndrome

Alternative Names

  • COH1
  • CHH1
  • Hypotonia Obesity and Prominent Incisors
  • Pepper Syndrome
  • CHS1
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

216550

Mode of Inheritance

Autosomal recessive

Gene Map Locus

8q22.2

Description

Cohen syndrome is an autosomal recessive disorder, characterized by microcephaly, non-progressive mental retardation, characteristic facial features, neutropenia, and ophthalmologic findings. 

Recently, a novel gene, COH1, was shown to carry mutations in many patients with Cohen syndrome.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
216550.1.1OmanFemaleYesYes Microcephaly; Global developmental dela...NM_017890.4:c.7934G>AHomozygousAutosomal, RecessiveHennies et al. 2004 Sibling of 216550.1....
216550.1.2OmanMaleYesYes Microcephaly; Global developmental del...NM_017890.4:c.7934G>AHomozygousAutosomal, RecessiveHennies et al. 2004 Sibling of 216550.1....
216550.1.3OmanMaleYesYes Microcephaly; Global developmental de...NM_017890.4:c.7934G>AHomozygousAutosomal, RecessiveHennies et al. 2004 Sibling of 216550.1....
216550.2.1Saudi ArabiaFemaleYesYes Microcephaly; Retinal dystrophy; Myopi...NM_017890.4:c.1219C>THomozygousAutosomal, RecessiveMochida et al. 2004 Sibling of 216550.2....
216550.2.2Saudi ArabiaMaleYesYes Microcephaly; Inferior cerebellar verm...NM_017890.4:c.1219C>THomozygousAutosomal, RecessiveMochida et al. 2004 Sibling of 216550.2....
216550.2.3Saudi ArabiaFemaleYesYes Microcephaly;NM_017890.4:c.1219C>THomozygousAutosomal, RecessiveMochida et al. 2004 Sibling of 216550.2....
216550.3.1PalestineMaleYesYes Exotropia; Retinal dystrophy; Optic di...NM_017890.4:c.1225G>THomozygousAutosomal, RecessiveTaban, 2007 Patient 'A1' in the ...
216550.3.2PalestineFemaleYesYes Retinal dystrophy; Esotropia; Bilatera...NM_017890.4:c.1225G>THomozygousAutosomal, RecessiveTaban, 2007 Patient 'A2' in the ...
216550.3.3PalestineFemaleYesYes Retinal dystrophy; Bilateral ptosis; O...NM_017890.4:c.1225G>THomozygousAutosomal, RecessiveTaban, 2007 Patient 'A3' in the ...
216550.4.1SyriaMaleYes Retinal dystrophy; Optic disc pallor; ...NM_017890.4:c.6530_6732delHomozygousAutosomal, RecessiveTaban, 2007 Patient 'B1' in the ...
216550.4.2SyriaFemaleYesYes Retinal dystrophy; Optic disc pallor; ...NM_017890.4:c.6530_6732delHomozygousAutosomal, RecessiveTaban, 2007 Patient 'B2' in the ...
216550.5.1LebanonMaleYesNo Intellectual disability; Microcephaly;...NM_017890.4:c.9406-1G>THomozygousAutosomal, RecessiveMégarbané et al. 2001; Mégarbané et al, 2009
216550.5.2LebanonMaleYesNo Intellectual disability; Microcephaly...NM_017890.4:c.9406-1G>THomozygousAutosomal, RecessiveMégarbané et al. 2001; Mégarbané et al, 2009 Brother of 216550.5....
216550.6.1LebanonMaleYesYes Intellectual disability; Pigmentary re...NM_152564.4:c.11251delHomozygousAutosomal, RecessiveProkudin et al. 2015
216550.6.2LebanonFemaleYesYes Intellectual disability; Pigmentary ret...NM_152564.4:c.11251delHomozygousAutosomal, RecessiveProkudin et al. 2015 Sibling of 216550.6....
216550.7LebanonUnknownNo Hypotonia; Obesity; Short stature; Globa...NM_017890.4:c.11785C>GHomozygousAutosomal, RecessiveJalkh et al. 2019
216550.8United Arab EmiratesFemaleNoYes Global developmental delay; Intellectual...NM_152564.4:c.7365delHomozygousAutosomal, RecessiveSaleh et al. 2021

Other Reports

Arab

Chandler et al. (2003) carried out a study that included two consanguineous Arab families with five patients affected with Cohen Syndrome. Haplotype analysis showed allele sharing across the COH1 critical region in the affected patients.

Lebanon

Horn et al. (2000) conducted homozygosity mapping in 2 brothers and a cousin from a multiply consanguineous kindred of Lebanese descent with a syndrome of microcephaly, progressive postnatal growth deficiency, mental retardation, hypotonia, chorioretinal dystrophy, and myopia. They localized the gene responsible for this condition to a 26.8-cM region on chromosome 8q21.3-q22.1.

 

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