NM_001127895.2(CHST8):c.229C>T (p.Arg77Trp) AND Peeling skin syndrome 3

Clinical significance:Pathogenic (Last evaluated: Apr 1, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000162277.3

Allele description [Variation Report for NM_001127895.2(CHST8):c.229C>T (p.Arg77Trp)]

NM_001127895.2(CHST8):c.229C>T (p.Arg77Trp)

Gene:
CHST8:carbohydrate sulfotransferase 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.11
Genomic location:
Preferred name:
NM_001127895.2(CHST8):c.229C>T (p.Arg77Trp)
HGVS:
  • NC_000019.10:g.33772017C>T
  • NG_029857.1:g.155062C>T
  • NM_001127895.2:c.229C>T
  • NP_001121367.1:p.Arg77Trp
  • NC_000019.9:g.34262922C>T
  • NM_001127895.1:c.229C>T
  • Q9H2A9:p.Arg77Trp
Protein change:
R77W; ARG77TRP
Links:
UniProtKB: Q9H2A9#VAR_067723; OMIM: 610190.0001; dbSNP: rs149660944
NCBI 1000 Genomes Browser:
rs149660944
Molecular consequence:
  • NM_001127895.1:c.229C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Peeling skin syndrome 3 (PSS3)
Identifiers:
MedGen: C4015729; Orphanet: 263543; Orphanet: 263548; OMIM: 616265

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000212257OMIMno assertion criteria providedPathogenic
(Apr 1, 2012)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome.

Cabral RM, Kurban M, Wajid M, Shimomura Y, Petukhova L, Christiano AM.

Genomics. 2012 Apr;99(4):202-8. doi: 10.1016/j.ygeno.2012.01.005. Epub 2012 Jan 25.

PubMed [citation]
PMID:
22289416
PMCID:
PMC4362535

Details of each submission

From OMIM, SCV000212257.2

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

Description

In 7 affected members of a consanguineous Pakistani family segregating autosomal recessive noninflammatory peeling skin syndrome (PSS3; 616265), Cabral et al. (2012) identified a homozygous c.229C-T transition in exon 4 of the CHST8 gene, resulting in an arg77-to-trp (R77W) substitution at a conserved residue. The mutation was predicted to perturb hydrophilicity of the protein. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not present in any public databases or in 400 chromosomes from 200 unrelated Pakistani controls. Cabral et al. (2012) cloned wildtype and R77W mutant CHST8 into an immortalized keratinocyte cell line and by Western blot analysis demonstrated lower levels of full-length GalNAc4ST1 in cells transfected with the mutant. The authors further showed that the mutant GalNAc4ST1 protein was not glycosylated and was therefore subject to increased degradation. By colorimetric assay, Cabral et al. (2012) showed decreased levels of total sulfated glycosaminoglycans in cells expressing mutant GalNAc4ST1 compared to those expressing wildtype GalNAc4ST1, suggesting loss of function of mutant GalNAc4ST1.

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

Last Updated: Jun 17, 2019

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