NM_152305.3(POGLUT1):c.652C>T (p.Arg218Ter) AND Dowling-Degos disease 4

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 2, 2014
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:: RCV000114420.3

Allele description [Variation Report for NM_152305.3(POGLUT1):c.652C>T (p.Arg218Ter)]

NM_152305.3(POGLUT1):c.652C>T (p.Arg218Ter)

Gene:

POGLUT1:protein O-glucosyltransferase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q13.33

Genomic location:

Preferred name:

NM_152305.3(POGLUT1):c.652C>T (p.Arg218Ter)

HGVS:

NC_000003.12:g.119486846C>T
NG_034115.1:g.22909C>T
NM_152305.3:c.652C>TMANE SELECT
NP_689518.1:p.Arg218Ter
NC_000003.11:g.119205693C>T
NM_152305.2:c.652C>T
NR_024265.2:n.854C>T

Protein change:

R218*; ARG218TER

Links:

OMIM: 615618.0002; dbSNP: rs587777294

NCBI 1000 Genomes Browser:

rs587777294

Molecular consequence:

NR_024265.2:n.854C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_152305.3:c.652C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Dowling-Degos disease 4
Identifiers:: MONDO: MONDO:0014307; MedGen: C3810313; Orphanet: 79145; OMIM: 615696

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000148352	OMIM	no assertion criteria provided	Pathogenic (Jan 2, 2014)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 21971768, 24387993

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000148352

OMIM

no assertion criteria provided

Pathogenic
(Jan 2, 2014)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

[Galli-Galli disease. Clinical and histopathological investigation using a case series of 18 patients].

Hanneken S, Rütten A, Eigelshoven S, Braun-Falco M, Pasternack SM, Ruzicka T, Nöthen MM, Betz RC, Kruse R.

Hautarzt. 2011 Nov;62(11):842-51. doi: 10.1007/s00105-011-2222-x. German.

PubMed [citation]

PMID:: 21971768

Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.

Basmanav FB, Oprisoreanu AM, Pasternack SM, Thiele H, Fritz G, Wenzel J, Größer L, Wehner M, Wolf S, Fagerberg C, Bygum A, Altmüller J, Rütten A, Parmentier L, El Shabrawi-Caelen L, Hafner C, Nürnberg P, Kruse R, Schoch S, Hanneken S, Betz RC.

Am J Hum Genet. 2014 Jan 2;94(1):135-43. doi: 10.1016/j.ajhg.2013.12.003.

PubMed [citation]

PMID:: 24387993
PMCID:: PMC3882728

Details of each submission

From OMIM, SCV000148352.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In 2 unrelated German patients with Dowling-Degos disease-4 (DDD4; 615696) who were previously studied by Hanneken et al. (2011), Basmanav et al. (2014) identified heterozygosity for a c.652C-T transition in exon 6 of the POGLUT1 gene, resulting in an arg218-to-ter (R218X) substitution. Immunohistologic staining for POGLUT1 was approximately 50% weaker in patient lesional skin compared to controls. Immunoblot analysis showed that the R218X truncation results in a protein of around 30 kD, compared to the wildtype size of 50kD.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 20, 2025

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