NM_001159772.1(CANT1):c.228dupC (p.Trp77Leufs) AND Desbuquois dysplasia 1

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2011
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:: RCV000024006.4

Allele description

NM_001159772.1(CANT1):c.228dupC (p.Trp77Leufs)

Gene:

CANT1:calcium activated nucleotidase 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

17q25.3

Genomic location:

Preferred name:

NM_001159772.1(CANT1):c.228dupC (p.Trp77Leufs)

HGVS:

NC_000017.11:g.78997395dupG
NG_016645.1:g.17423dup
NM_001159772.1:c.228dupC
NP_001153244.1:p.Trp77Leufs
NC_000017.10:g.76993477dupG

Links:

OMIM: 613165.0009; dbSNP: rs587776896

NCBI 1000 Genomes Browser:

rs587776896

Molecular consequence:

NM_001159772.1:c.228dupC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Desbuquois dysplasia 1 (DBQD1)
Synonyms:: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION; DESBUQUOIS DYSPLASIA 1, KIM VARIANT
Identifiers:: MedGen: C4012146; Orphanet: 1425; OMIM: 251450

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000045297	OMIM	no assertion criteria provided	Pathogenic (Nov 1, 2011)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 21654728, 21037275, 20358610

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000045297

OMIM

no assertion criteria provided

Pathogenic
(Nov 1, 2011)

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

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene.

Laccone F, Schoner K, Krabichler B, Kluge B, Schwerdtfeger R, Schulze B, Zschocke J, Rehder H.

Eur J Hum Genet. 2011 Nov;19(11):1133-7. doi: 10.1038/ejhg.2011.101. Epub 2011 Jun 8.

PubMed [citation]

PMID:: 21654728
PMCID:: PMC3198135

CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.

Furuichi T, Dai J, Cho TJ, Sakazume S, Ikema M, Matsui Y, Baynam G, Nagai T, Miyake N, Matsumoto N, Ohashi H, Unger S, Superti-Furga A, Kim OH, Nishimura G, Ikegawa S.

J Med Genet. 2011 Jan;48(1):32-7. doi: 10.1136/jmg.2010.080226. Epub 2010 Oct 30.

PubMed [citation]

PMID:: 21037275

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000045297.4

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

Description

In a German fetus with a severe form of Desbuquois dysplasia-1 (DBQD1; 251450), Laccone et al. (2011) identified a homozygous 1-bp insertion (228insC) in exon 2 of the CANT1 gene, resulting in a frameshift and premature termination. Another unrelated German fetus with the disorder was compound heterozygous for the 228insC mutation and another frameshift mutation in exon 2 (277_278delCT; 613165.0010). Both mutations were predicted to cause nonsense-mediated mRNA decay with complete loss of protein function. Haplotype analysis indicated a founder effect for the 228insC mutation. Neither mutation was found in 200 control chromosomes.

Furuichi et al. (2011) identified compound heterozygosity for the 228insC mutation and a leu224-to-pro (L224P; 613165.0011) substitution in an Australian Caucasian 19-week-old fetus with severe DBQD1 who was previously reported by Baynam et al. (2010).

#	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: Mar 31, 2019

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