Shaheen Syndrome

Alternative Names

  • SHNS
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

615328

Mode of Inheritance

Autosomal recessive

Gene Map Locus

13q14.11

Description

Shaheen syndrome is an autosomal recessive form of syndromic intellectual disability. Apart from severe intellectual disability, patients suffer from hypohidrosis, hyperkeratosis of the palms and soles, dental enamel hypoplasia and dental caries. Despite the hypohidrosis, patients are seen to have normal numbers of sweat glands. The condition can result in episodic hyperthermia. In some cases, mild microcephaly may develop. The disorder has an onset at birth.

The syndrome follows an autosomal recessive pattern of inheritance and is caused by homozygous mutations in the COG6 gene. This gene encodes a subunit of the Conserved Oligomeric Golgi complex, a hetero-octameric peripheral Golgi protein complex believed to play a role in maintaining the structure and function of the Golgi apparatus. Shaheen syndrome is believed to correlate to milder mutations in the COG6 gene such as deep intronic variants, while loss-of-function variants in the gene can cause lethal forms of CDGIIl.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615328.1.1Saudi ArabiaMaleYesYes Hypohidrosis; Palmoplantar hyperkeratosi...NM_020751.3:c.1167-24A>GHomozygousAutosomal, RecessiveAlazami et al. 2015; Shaheen et al. 2013
615328.2Saudi ArabiaMaleYesNo Microcephaly; Motor delay; Intellectual ...NM_020751.3:c.1075-1G>THomozygousAutosomal, RecessiveMonies et al. 2017
615328.1.G.1Saudi ArabiaYesYes Hypohidrosis; Palmoplantar hyperkeratosi...NM_020751.3:c.1167-24A>GHomozygousAutosomal, RecessiveShaheen et al. 2013 7 relatives of 61532...
615328.G.1Saudi ArabiaUnknownYesYes Hypohidrosis; Palmoplantar hyperkeratosi...NM_020751.3:c.1167-24A>GHomozygousAutosomal, RecessiveShaheen et al. 2013 4 patients from 2 di...
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