NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer) AND Ehlers-Danlos syndrome, musculocontractural type 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 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:: RCV001290022.1

Allele description [Variation Report for NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer)]

NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer)

Genes:

LOC130056851:ATAC-STARR-seq lymphoblastoid silent region 6336 [Gene]
CHST14:carbohydrate sulfotransferase 14 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q15.1

Genomic location:

Preferred name:

NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer)

HGVS:

NC_000015.10:g.40471358del
NG_017074.1:g.5398del
NM_130468.4:c.145delMANE SELECT
NP_569735.1:p.Ala48_Val49insTer
NP_569735.1:p.Ala48_Val49insTer
LRG_600t1:c.145del
LRG_600:g.5398del
LRG_600p1:p.Ala48_Val49insTer
NC_000015.9:g.40763557del
NM_130468.3:c.145del
NM_130468.3:c.145delG

Links:

OMIM: 608429.0001; dbSNP: rs397518432

NCBI 1000 Genomes Browser:

rs397518432

Molecular consequence:

NM_130468.4:c.145del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Ehlers-Danlos syndrome, musculocontractural type 1
Identifiers:: MONDO: MONDO:0020681; MedGen: CN295219; OMIM: 601776

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Mus musculus unkempt-like (Drosophila), mRNA (cDNA clone IMAGE:30619605), comple...
Mus musculus unkempt-like (Drosophila), mRNA (cDNA clone IMAGE:30619605), complete cds
gi|58476119|gb|BC089378.1|

Nucleotide
AGENCOURT_11043306 NICHD_XGC_Emb1 Xenopus laevis cDNA clone IMAGE:6866524 5', mR...
AGENCOURT_11043306 NICHD_XGC_Emb1 Xenopus laevis cDNA clone IMAGE:6866524 5', mRNA sequence
gi|26043550|gnl|dbEST|15605142|gb|C 47.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000022584	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2010)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 9084938, 20004762, 20842734

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000022584

OMIM

no assertion criteria provided

Pathogenic
(Nov 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

An autosomal recessive adducted thumb-club foot syndrome observed in Turkish cousins.

Dundar M, Demiryilmaz F, Demiryilmaz I, Kumandas S, Erkilic K, Kendirci M, Tuncel M, Ozyazgan I, Tolmie JL.

Clin Genet. 1997 Jan;51(1):61-4.

PubMed [citation]

PMID:: 9084938

Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.

Dündar M, Müller T, Zhang Q, Pan J, Steinmann B, Vodopiutz J, Gruber R, Sonoda T, Krabichler B, Utermann G, Baenziger JU, Zhang L, Janecke AR.

Am J Hum Genet. 2009 Dec;85(6):873-82. doi: 10.1016/j.ajhg.2009.11.010.

PubMed [citation]

PMID:: 20004762
PMCID:: PMC2790573

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000022584.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

Description

In affected members of a consanguineous Turkish pedigree with adducted thumbs, clubfeet, and progressive joint and skin laxity (EDSMC1; 601776), originally described by Dundar et al. (1997), Dundar et al. (2009) identified homozygosity for a 1-bp deletion (145delG) in the CHST14 gene, predicted to cause a frameshift and result in premature termination. No product was detected by immunoblot in transfected HEK293/T cells, and no significant amount of D4ST1 was detected in the medium, suggesting degradation of the mutant before reaching the Golgi.

In 2 Turkish sisters with the musculocontractural type of Ehlers-Danlos syndrome, Malfait et al. (2010) identified homozygosity for the 145delG mutation in the CHST14 gene. The deletion was found in heterozygosity in their parents, and was not detected in 109 controls.

#	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 14, 2023

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