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NM_000474.4(TWIST1):c.541G>T (p.Glu181Ter) AND Saethre-Chotzen syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 15, 1999
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:
RCV000008444.4

Allele description [Variation Report for NM_000474.4(TWIST1):c.541G>T (p.Glu181Ter)]

NM_000474.4(TWIST1):c.541G>T (p.Glu181Ter)

Genes:
LOC129998021:ATAC-STARR-seq lymphoblastoid active region 25682 [Gene]
TWIST1:twist family bHLH transcription factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p21.1
Genomic location:
Preferred name:
NM_000474.4(TWIST1):c.541G>T (p.Glu181Ter)
HGVS:
  • NC_000007.14:g.19116781C>A
  • NG_008114.2:g.5892G>T
  • NM_000474.4:c.541G>TMANE SELECT
  • NP_000465.1:p.Glu181Ter
  • NC_000007.13:g.19156404C>A
  • NR_149001.2:n.856G>T
Protein change:
E181*; GLU181TER
Links:
OMIM: 601622.0008; dbSNP: rs104894058
NCBI 1000 Genomes Browser:
rs104894058
Molecular consequence:
  • NR_149001.2:n.856G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000474.4:c.541G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Saethre-Chotzen syndrome (SCS)
Synonyms:
ACS III; Acrocephalo-syndactyly, type 3; Chotzen syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007042; MedGen: C0175699; Orphanet: 794; OMIM: 101400

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000028652OMIM
no assertion criteria provided
Pathogenic
(Jan 15, 1999) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.

Gripp KW, Stolle CA, Celle L, McDonald-McGinn DM, Whitaker LA, Zackai EH.

Am J Med Genet. 1999 Jan 15;82(2):170-6.

PubMed [citation]
PMID:
9934984

Details of each submission

From OMIM, SCV000028652.2

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

Description

Gripp et al. (1999) described an E181X (glu181-to-ter) mutation in the TWIST gene, predicted to lead to premature termination of the protein carboxy-terminal to the helix 2 domain, in a child with cranial synostosis and unilateral radial aplasia. The diagnosis of Baller-Gerold syndrome (218600) was entertained. After the TWIST mutation was discovered, which pointed to the diagnosis of Saethre-Chotzen syndrome (SCS; 101400), the whole family was investigated. Facial asymmetry, prominent nose, high palate, and hallux valgus observed in the father and older sister were consistent with mild presentation of SCS and these 2 individuals were found also to carry the TWIST mutation.

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

Last Updated: Oct 14, 2023