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NM_000360.4(TH):c.983G>T (p.Cys328Phe) AND Autosomal recessive DOPA responsive dystonia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 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:
RCV000013127.17

Allele description

NM_000360.4(TH):c.983G>T (p.Cys328Phe)

Gene:
TH:tyrosine hydroxylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_000360.4(TH):c.983G>T (p.Cys328Phe)
HGVS:
  • NC_000011.10:g.2166544C>A
  • NG_008128.1:g.10262G>T
  • NM_000360.4:c.983G>TMANE SELECT
  • NM_199292.3:c.1076G>T
  • NM_199293.3:c.1064G>T
  • NP_000351.2:p.Cys328Phe
  • NP_954986.2:p.Cys359Phe
  • NP_954987.2:p.Cys355Phe
  • NC_000011.9:g.2187774C>A
  • P07101:p.Cys359Phe
Protein change:
C328F; CYS359PHE
Links:
UniProtKB: P07101#VAR_072874; OMIM: 191290.0011; dbSNP: rs121917765
NCBI 1000 Genomes Browser:
rs121917765
Molecular consequence:
  • NM_000360.4:c.983G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199292.3:c.1076G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199293.3:c.1064G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive DOPA responsive dystonia
Synonyms:
Segawa syndrome, autosomal recessive; DYT-TH; TH-deficient dopa-responsive dystonia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011551; MedGen: C2673535; Orphanet: 101150; OMIM: 605407

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000033374OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 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

Biochemical and molecular genetic characteristics of the severe form of tyrosine hydroxylase deficiency.

Bräutigam C, Steenbergen-Spanjers GC, Hoffmann GF, Dionisi-Vici C, van den Heuvel LP, Smeitink JA, Wevers RA.

Clin Chem. 1999 Dec;45(12):2073-8.

PubMed [citation]
PMID:
10585338

Details of each submission

From OMIM, SCV000033374.2

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

Description

In an Italian boy, born of consanguineous parents, with a severe form of Segawa syndrome (605407), Brautigam et al. (1999) identified a homozygous 1076G-T transversion in exon 10 of the TH gene, resulting in a cys359-to-phe (C359F) substitution in a highly conserved residue. The mutation was predicted to alter the secondary structure of the protein. The patient was born prematurely, showed respiratory distress, progressive hypotonia, dysphagia, hypokinesia, and reduced facial mimicry. He also had prolonged diurnal periods of lethargy with increased sweating alternative with irritability and rare sporadic dystonic movements. Brain MRI at age 5 months showed cerebral atrophy. CSF homovanillic acid (HVA) was undetectable. Response to L-DOPA treatment was limited and not as favorable as reported in other patients with the disorder.

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

Last Updated: Jan 17, 2021