NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser) AND Cranioectodermal dysplasia 4

Clinical significance:Pathogenic (Last evaluated: Sep 12, 2013)

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

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000023681.6

Allele description [Variation Report for NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)]

NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)

Gene:
WDR19:WD repeat domain 19 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4p14
Genomic location:
Preferred name:
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)
HGVS:
  • NC_000004.12:g.39231943T>C
  • NG_031813.1:g.54540T>C
  • NM_001317924.2:c.1649T>C
  • NM_025132.4:c.2129T>CMANE SELECT
  • NP_001304853.1:p.Leu550Ser
  • NP_079408.3:p.Leu710Ser
  • NC_000004.11:g.39233563T>C
  • NM_025132.3:c.2129T>C
  • Q8NEZ3:p.Leu710Ser
Protein change:
L550S; LEU710SER
Links:
UniProtKB: Q8NEZ3#VAR_067314; OMIM: 608151.0001; dbSNP: rs387906980
NCBI 1000 Genomes Browser:
rs387906980
Molecular consequence:
  • NM_001317924.2:c.1649T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_025132.4:c.2129T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cranioectodermal dysplasia 4 (CED4)
Identifiers:
MONDO: MONDO:0013719; MedGen: C3280616; Orphanet: 1515; OMIM: 614378

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000044972OMIMno assertion criteria providedPathogenic
(Aug 1, 2013)
germlineliterature only

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

SCV000087013GeneReviewsno assertion criteria providedpathologic
(Sep 12, 2013)
not providedcuration

Summary from all submissions

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

Citations

PubMed

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19.

Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbø M, Filhol E, Bole-Feysot C, Nitschké P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, et al.

Am J Hum Genet. 2011 Nov 11;89(5):634-43. doi: 10.1016/j.ajhg.2011.10.001. Epub 2011 Oct 20.

PubMed [citation]
PMID:
22019273
PMCID:
PMC3213394

WDR19: an ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior-Loken syndrome.

Coussa RG, Otto EA, Gee HY, Arthurs P, Ren H, Lopez I, Keser V, Fu Q, Faingold R, Khan A, Schwartzentruber J, Majewski J, Hildebrandt F, Koenekoop RK.

Clin Genet. 2013 Aug;84(2):150-9. doi: 10.1111/cge.12196.

PubMed [citation]
PMID:
23683095
PMCID:
PMC3904424

Details of each submission

From OMIM, SCV000044972.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Cranioectodermal Dysplasia 4

In a Norwegian sister and brother with Sensenbrenner syndrome (cranioectodermal dysplasia-4; 614378), Bredrup et al. (2011) identified compound heterozygosity for a 2129T-C transition in exon 18 of the WDR19 gene, resulting in a leu710-to-ser (L710S) substitution, and a 3307C-T transition in exon 30, resulting in an arg1103-to-ter (R1103X; 608151.0002) substitution. Each unaffected parent was heterozygous for 1 of the mutations, which were not found in 422 Norwegian controls. No IFT144 was detected in the cilia of patient fibroblasts, indicating a complete loss of function; in addition, there was significant reduction in the number of ciliated cells as well as in cilium length of most cilia that were observed compared to cilia of control fibroblasts.

Senior-Loken Syndrome 8

In affected members of a consanguineous French Canadian family with retinitis pigmentosa and renal cysts (SLSN8; 616307), who were negative for mutation in all known autosomal recessive retinitis pigmentosa-associated genes, Coussa et al. (2013) identified homozygosity for the c.2129T-C mutation (c.2129T-C, NM_025132.3) in the WDR19 gene, resulting in the L710S substitution.

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

From GeneReviews, SCV000087013.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: May 10, 2021

Support Center