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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026598	OMIM	no assertion criteria provided	Pathogenic (Oct 1, 2010)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 18513679, 20830804

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026598

OMIM

no assertion criteria provided

Pathogenic
(Oct 1, 2010)

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

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

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

#	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: Dec 11, 2022

ClinVar

Relating variation to medicine