NM_000161.3(GCH1):c.142C>T (p.Gln48Ter) AND Dystonia 5

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2001
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:: RCV000009871.2

Allele description [Variation Report for NM_000161.3(GCH1):c.142C>T (p.Gln48Ter)]

NM_000161.3(GCH1):c.142C>T (p.Gln48Ter)

Gene:

GCH1:GTP cyclohydrolase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q22.2

Genomic location:

Preferred name:

NM_000161.3(GCH1):c.142C>T (p.Gln48Ter)

HGVS:

NC_000014.9:g.54902522G>A
NG_008647.1:g.5303C>T
NM_000161.3:c.142C>TMANE SELECT
NM_001024024.2:c.142C>T
NM_001024070.2:c.142C>T
NM_001024071.2:c.142C>T
NP_000152.1:p.Gln48Ter
NP_001019195.1:p.Gln48Ter
NP_001019241.1:p.Gln48Ter
NP_001019242.1:p.Gln48Ter
NC_000014.8:g.55369240G>A

Protein change:

Q48*; GLN48TER

Links:

OMIM: 600225.0018; dbSNP: rs104894444

NCBI 1000 Genomes Browser:

rs104894444

Molecular consequence:

NM_000161.3:c.142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001024024.2:c.142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001024070.2:c.142C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001024071.2:c.142C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Dystonia 5 (DRD)
Synonyms:: Dystonia, progressive, with diurnal variation; Dystonia-Parkinsonism with diurnal fluctuation; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0007495; MedGen: C1851920; Orphanet: 98808; OMIM: 128230

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030092	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 2001)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030092

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 2001)

germline

literature only

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

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

A novel nonsense mutation of the GTP cyclohydrolase I gene in a family with dopa-responsive dystonia.

Hong KM, Kim YS, Paik MK.

Hum Hered. 2001;52(1):59-60.

PubMed [citation]

PMID:: 11359069

Details of each submission

From OMIM, SCV000030092.1

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

Description

In affected members of a Korean family with dopa-responsive dystonia (128230), Hong et al. (2001) identified a heterozygous 142C-T transition in exon 1 of the GCH1 gene, resulting in nonsense mutation (gln48-to-ter; Q48X). Two sisters and 3 of their children were affected and carried the mutation. Expression was milder in the 1 male of the 5 symptomatic relatives; 3 individuals in another branch of the family carried the mutation but were asymptomatic.

#	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: Sep 29, 2024

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