NM_001271893.4(TWIST2):c.355C>T (p.Gln119Ter) AND Focal facial dermal dysplasia type III

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 13, 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:: RCV000023655.3

Allele description [Variation Report for NM_001271893.4(TWIST2):c.355C>T (p.Gln119Ter)]

NM_001271893.4(TWIST2):c.355C>T (p.Gln119Ter)

Gene:

TWIST2:twist family bHLH transcription factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.3

Genomic location:

Preferred name:

NM_001271893.4(TWIST2):c.355C>T (p.Gln119Ter)

HGVS:

NC_000002.12:g.238848570C>T
NG_032754.2:g.5539C>T
NM_001271893.4:c.355C>TMANE SELECT
NM_057179.3:c.355C>T
NP_001258822.1:p.Gln119Ter
NP_476527.1:p.Gln119Ter
NC_000002.11:g.239757211C>T
NM_057179.2:c.355C>T

Protein change:

Q119*; GLN119TER

Links:

OMIM: 607556.0001; dbSNP: rs387906973

NCBI 1000 Genomes Browser:

rs387906973

Molecular consequence:

NM_001271893.4:c.355C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_057179.3:c.355C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Focal facial dermal dysplasia type III
Synonyms:: FOCAL FACIAL DERMAL DYSPLASIA, TYPE II; Setleis syndrome; Bitemporal forceps marks syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009203; MedGen: C1744559; Orphanet: 1807; Orphanet: 398166; OMIM: 227260

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000044946	OMIM	no assertion criteria provided	Pathogenic (Aug 13, 2010)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 14069095, 20691403

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000044946

OMIM

no assertion criteria provided

Pathogenic
(Aug 13, 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 ECTODERMAL DYSPLASIA OF THE FACE.

SETLEIS H, KRAMER B, VALCARCEL M, EINHORN AH.

Pediatrics. 1963 Oct;32:540-8. No abstract available.

PubMed [citation]

PMID:: 14069095

Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.

Tukel T, Šošić D, Al-Gazali LI, Erazo M, Casasnovas J, Franco HL, Richardson JA, Olson EN, Cadilla CL, Desnick RJ.

Am J Hum Genet. 2010 Aug 13;87(2):289-96. doi: 10.1016/j.ajhg.2010.07.009.

PubMed [citation]

PMID:: 20691403
PMCID:: PMC2917720

Details of each submission

From OMIM, SCV000044946.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In affected members from a large multigenerational Puerto Rican family segregating the Setleis type of focal facial dermal dysplasia (FFDD3; 227260), originally reported by Setleis et al. (1963), Tukel et al. (2010) identified homozygosity for a 486C-T transition in the TWIST2 gene, resulting in a gln119-to-ter (Q119X) substitution that was predicted to truncate the C terminus after the bHLH motif. Quantitative PCR in transfected HeLa cells revealed 3- to 4-fold decreased amounts of mRNA compared to wildtype; immunoblot analysis showed that the mutant protein was unstable, consistent with nonsense-mediated decay.

#	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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