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NM_020751.3(COG6):c.1167-24A>G AND Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2013
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000050228.5

Allele description [Variation Report for NM_020751.3(COG6):c.1167-24A>G]

NM_020751.3(COG6):c.1167-24A>G

Gene:
COG6:component of oligomeric golgi complex 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.11
Genomic location:
Preferred name:
NM_020751.3(COG6):c.1167-24A>G
HGVS:
  • NC_000013.11:g.39699477A>G
  • NG_028352.1:g.48851A>G
  • NM_001145079.2:c.1167-24A>G
  • NM_020751.3:c.1167-24A>GMANE SELECT
  • NC_000013.10:g.40273614A>G
  • NM_020751.2:c.1167-24A>G
Nucleotide change:
IVS12AS, A-G, -24
Links:
OMIM: 606977.0002; dbSNP: rs730882236
NCBI 1000 Genomes Browser:
rs730882236
Molecular consequence:
  • NM_001145079.2:c.1167-24A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_020751.3:c.1167-24A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Synonyms:
Shaheen syndrome
Identifiers:
MONDO: MONDO:0014131; MedGen: C3809160; Orphanet: 363523; OMIM: 615328

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000082807OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2013) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency.

Shaheen R, Ansari S, Alshammari MJ, Alkhalidi H, Alrukban H, Eyaid W, Alkuraya FS.

J Med Genet. 2013 Jul;50(7):431-6. doi: 10.1136/jmedgenet-2013-101527. Epub 2013 Apr 20.

PubMed [citation]
PMID:
23606727

Details of each submission

From OMIM, SCV000082807.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 12 patients from 3 consanguineous Saudi families with Shaheen syndrome (SHNS; 615328), Shaheen et al. (2013) identified a homozygous A-to-G transition in intron 12 of the COG6 gene (c.1167-24A-G), resulting in a splice site alteration. RT-PCR analysis showed a reduced level of the normal transcript, and high levels of an aberrant transcript causing a frameshift and premature termination (Gly390PhefsTer6). Western blot analysis of patient cells showed a 70% reduction in COG6 protein levels and decreased levels of STX6 (603944), an interacting protein. The mutation, which was identified by homozygosity mapping and exome sequencing, segregated with the disorder. Isoelectric focusing of serum transferrin was repeatedly normal, showing no glycosylation defects.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 6, 2024