NM_001079668.3(NKX2-1):c.745C>T (p.Gln249Ter) AND Benign hereditary chorea

Clinical significance:Pathogenic (Last evaluated: Dec 1, 2005)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000009543.7

Allele description [Variation Report for NM_001079668.3(NKX2-1):c.745C>T (p.Gln249Ter)]

NM_001079668.3(NKX2-1):c.745C>T (p.Gln249Ter)

Genes:
NKX2-1:NK2 homeobox 1 [Gene - OMIM - HGNC]
SFTA3:surfactant associated 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q13.3
Genomic location:
Preferred name:
NM_001079668.3(NKX2-1):c.745C>T (p.Gln249Ter)
HGVS:
  • NC_000014.9:g.36517739G>A
  • NG_013365.1:g.7487C>T
  • NM_001079668.3:c.745C>T
  • NM_003317.4:c.655C>T
  • NP_001073136.1:p.Gln249Ter
  • NP_003308.1:p.Gln219Ter
  • NC_000014.8:g.36986944G>A
  • NM_001079668.2:c.745C>T
Protein change:
Q219*; GLN249TER
Links:
OMIM: 600635.0009; dbSNP: rs137852694
NCBI 1000 Genomes Browser:
rs137852694
Molecular consequence:
  • NM_001079668.3:c.745C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003317.4:c.655C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Benign hereditary chorea (BHC)
Synonyms:
HEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA
Identifiers:
MedGen: C0393584; Orphanet: 1429; OMIM: 118700

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000029761OMIMno assertion criteria providedPathogenic
(Dec 1, 2005)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea.

Costa MC, Costa C, Silva AP, Evangelista P, Santos L, Ferro A, Sequeiros J, Maciel P.

Neurogenetics. 2005 Dec;6(4):209-15. Epub 2005 Oct 12.

PubMed [citation]
PMID:
16220345

Details of each submission

From OMIM, SCV000029761.4

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

Description

In a Portuguese mother and son with benign hereditary chorea (BHC; 118700), Costa et al. (2005) identified a heterozygous 745C-T transition in the TITF1 gene, resulting in a gln249-to-ter (Q249X) substitution at the end of helix III of the homeodomain. The mutation is predicted to yield a protein lacking its 153 C-terminal amino acids, including the entire NK2-specific domain. Brain MRI showed symmetrical foci of hyperintense signals in the basal ganglia of the mother and subtle abnormalities of the cerebellum in the son. Neither patient had evidence of thyroid dysfunction.

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

Last Updated: Nov 2, 2019

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