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NM_004085.4(TIMM8A):c.116del (p.Met39fs) AND Deafness dystonia syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 1996
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:
RCV000012070.19

Allele description [Variation Report for NM_004085.4(TIMM8A):c.116del (p.Met39fs)]

NM_004085.4(TIMM8A):c.116del (p.Met39fs)

Gene:
TIMM8A:translocase of inner mitochondrial membrane 8A [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
Xq22.1
Genomic location:
Preferred name:
NM_004085.4(TIMM8A):c.116del (p.Met39fs)
HGVS:
  • NC_000023.11:g.101348549del
  • NG_009616.1:g.42676del
  • NG_011734.1:g.5421del
  • NM_001145951.2:c.116del
  • NM_004085.4:c.116delMANE SELECT
  • NP_001139423.1:p.Met39fs
  • NP_004076.1:p.Met39fs
  • LRG_128:g.42676del
  • NC_000023.10:g.100603537del
  • NM_004085.3:c.116del
Note:
NCBI staff reviewed the sequence information reported in PubMed 8841189 Fig. 3c to determine the location of this allele on the current reference sequence.
Protein change:
M39fs
Links:
OMIM: 300356.0001; dbSNP: rs869320664
NCBI 1000 Genomes Browser:
rs869320664
Molecular consequence:
  • NM_001145951.2:c.116del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_004085.4:c.116del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Deafness dystonia syndrome (MTS)
Synonyms:
Mohr-Tranebjaerg syndrome; Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency; Deafness-dystonia-optic atrophy syndrome; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010578; MedGen: C0796074; Orphanet: 52368; OMIM: 304700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000032304OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 1996) 		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

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness.

Jin H, May M, Tranebjaerg L, Kendall E, Fontán G, Jackson J, Subramony SH, Arena F, Lubs H, Smith S, Stevenson R, Schwartz C, Vetrie D.

Nat Genet. 1996 Oct;14(2):177-80.

PubMed [citation]
PMID:
8841189

Details of each submission

From OMIM, SCV000032304.2

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

Description

In the original Norwegian family with Mohr-Tranebjaerg syndrome (MTS; 304700), Jin et al. (1996) demonstrated that affected males carried a 1-bp deletion in exon 1 (151delT). The consequent frameshift resulted in the incorporation of 25 novel amino acids after the glutamic acid at codon 38, followed by polypeptide termination.

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

Last Updated: Aug 19, 2023