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NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys) AND Spondyloepimetaphyseal dysplasia, Maroteaux type

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2010
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:
RCV000005304.12

Allele description [Variation Report for NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)]

NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)

Gene:
TRPV4:transient receptor potential cation channel subfamily V member 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q24.11
Genomic location:
Preferred name:
NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)
Other names:
E797K
HGVS:
  • NC_000012.12:g.109784385C>T
  • NG_017090.1:g.54023G>A
  • NM_001177428.1:c.2248G>A
  • NM_001177431.1:c.2287G>A
  • NM_001177433.1:c.2068G>A
  • NM_021625.5:c.2389G>AMANE SELECT
  • NM_147204.2:c.2209G>A
  • NP_001170899.1:p.Glu750Lys
  • NP_001170902.1:p.Glu763Lys
  • NP_001170904.1:p.Glu690Lys
  • NP_067638.3:p.Glu797Lys
  • NP_067638.3:p.Glu797Lys
  • NP_671737.1:p.Glu737Lys
  • LRG_372t1:c.2389G>A
  • LRG_372:g.54023G>A
  • LRG_372p1:p.Glu797Lys
  • NC_000012.11:g.110222190C>T
  • NM_021625.4:c.2389G>A
  • NM_021625.4:c.[2389G>A]
  • Q9HBA0:p.Glu797Lys
Protein change:
E690K; GLU797LYS
Links:
UniProtKB: Q9HBA0#VAR_064537; OMIM: 605427.0018; dbSNP: rs267607149
NCBI 1000 Genomes Browser:
rs267607149
Molecular consequence:
  • NM_001177428.1:c.2248G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177431.1:c.2287G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177433.1:c.2068G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021625.5:c.2389G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_147204.2:c.2209G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Spondyloepimetaphyseal dysplasia, Maroteaux type
Synonyms:
Spondyloepiphyseal dysplasia Maroteaux type; SED, Maroteaux type; PSEUDO-MORQUIO SYNDROME, TYPE 2
Identifiers:
MONDO: MONDO:0008473; MedGen: C3159322; Orphanet: 263482; OMIM: 184095

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000025482OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2010) 		germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, et al.

J Med Genet. 2010 Oct;47(10):704-9. doi: 10.1136/jmg.2009.075358. Epub 2010 Jun 24.

PubMed [citation]
PMID:
20577006

Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.

Nishimura G, Dai J, Lausch E, Unger S, Megarbané A, Kitoh H, Kim OH, Cho TJ, Bedeschi F, Benedicenti F, Mendoza-Londono R, Silengo M, Schmidt-Rimpler M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A.

Am J Med Genet A. 2010 Jun;152A(6):1443-9. doi: 10.1002/ajmg.a.33414.

PubMed [citation]
PMID:
20503319
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000025482.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

Spondylometaphyseal Dysplasia, Kozlowski Type

In a patient with the Kozlowski type of spondylometaphyseal dysplasia (SMDK; 184252), Dai et al. (2010) identified heterozygosity for a c.2389G-A transition in exon 15 of the TRPV4 gene, resulting in a glu797-to-lys (E797K) substitution at an evolutionarily conserved residue in the cytoplasmic domain. The authors noted that this was the first SMDK patient to be reported with a mutation in exon 15, which otherwise appears to be a hotspot for mutations causing metatropic dysplasia (MTD; 156530).

Spondylometaphyseal Dysplasia, Maroteaux Type

In an adult woman with the Maroteaux type of spondyloepiphyseal dysplasia (184095), Nishimura et al. (2010) identified heterozygosity for the E797K mutation in the TRPV4 gene.

Metatropic Dysplasia

Camacho et al. (2010) identified a heterozygous E797K mutation in a patient with a mild form of metatropic dysplasia (MTD; 156530), with little or no scoliosis, mild platyspondyly, mild metaphyseal widening, and carpal ossification delay.

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

Last Updated: Nov 3, 2024