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NM_004273.5(CHST3):c.664C>T (p.Arg222Trp) AND Spondyloepiphyseal dysplasia with congenital joint dislocations

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:
RCV000006415.3

Allele description [Variation Report for NM_004273.5(CHST3):c.664C>T (p.Arg222Trp)]

NM_004273.5(CHST3):c.664C>T (p.Arg222Trp)

Gene:
CHST3:carbohydrate sulfotransferase 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q22.1
Genomic location:
Preferred name:
NM_004273.5(CHST3):c.664C>T (p.Arg222Trp)
HGVS:
  • NC_000010.11:g.72007695C>T
  • NG_012635.1:g.48334C>T
  • NM_004273.5:c.664C>TMANE SELECT
  • NP_004264.2:p.Arg222Trp
  • NC_000010.10:g.73767453C>T
  • Q7LGC8:p.Arg222Trp
Protein change:
R222W; ARG222TRP
Links:
UniProtKB: Q7LGC8#VAR_047856; OMIM: 603799.0003; dbSNP: rs121908617
NCBI 1000 Genomes Browser:
rs121908617
Molecular consequence:
  • NM_004273.5:c.664C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD)
Synonyms:
Kozlowski Celermajer Tink syndrome; Humero-spinal dysostosis with congenital heart disease
Identifiers:
MONDO: MONDO:0007738; MedGen: C1837657; Orphanet: 263463; OMIM: 143095

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000026598OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2010) 		germlineliterature only

PubMed (2)
[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

Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis.

Hermanns P, Unger S, Rossi A, Perez-Aytes A, Cortina H, Bonafé L, Boccone L, Setzu V, Dutoit M, Sangiorgi L, Pecora F, Reicherter K, Nishimura G, Spranger J, Zabel B, Superti-Furga A.

Am J Hum Genet. 2008 Jun;82(6):1368-74. doi: 10.1016/j.ajhg.2008.05.006. Erratum in: Am J Hum Genet. 2008 Aug;83(2):293.

PubMed [citation]
PMID:
18513679
PMCID:
PMC2427316

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features.

Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, et al.

Am J Med Genet A. 2010 Oct;152A(10):2543-9. doi: 10.1002/ajmg.a.33641.

PubMed [citation]
PMID:
20830804

Details of each submission

From OMIM, SCV000026598.2

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

Description

In a 17-year-old Swiss patient with spondyloepiphyseal dysplasia with congenital joint dislocations (SEDCJD; 143095), born of parents from the same small village, Hermanns et al. (2008) identified homozygosity for a 664C-T transition in exon 3 of the CHST3 gene, resulting in an arg222-to-trp (R222W) substitution at a highly conserved residue. The parents were heterozygous for the mutation, and the patient had an unaffected brother. Functional analysis in cultured skin fibroblasts revealed that the R222W mutation severely impaired or abolished CHST3 function. Unger et al. (2010) restudied this patient and noted that although initially the diagnosis had been Larsen syndrome (see 245600), there was now clear evidence of SED with severe spinal degeneration.

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

Last Updated: Dec 11, 2022