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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oocyte zinc finger protein XlCOF7.1-like [Xenopus tropicalis]
oocyte zinc finger protein XlCOF7.1-like [Xenopus tropicalis]
gi|1785412787|ref|XP_031748908.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000025482	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 2010)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 20577006, 20503319, 20425821

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000025482

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 2010)

germline

literature only

PubMed (3)
[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

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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.

#	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: Oct 13, 2024

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