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NM_006554.5(MTX2):c.295_296del (p.Ser98_Leu99insTer) AND Mandibuloacral dysplasia progeroid syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 16, 2020
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:
RCV001270625.1

Allele description [Variation Report for NM_006554.5(MTX2):c.295_296del (p.Ser98_Leu99insTer)]

NM_006554.5(MTX2):c.295_296del (p.Ser98_Leu99insTer)

Gene:
MTX2:metaxin 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
2q31.1
Genomic location:
Preferred name:
NM_006554.5(MTX2):c.295_296del (p.Ser98_Leu99insTer)
HGVS:
  • NC_000002.12:g.176328300CT[1]
  • NC_000002.12:g.176328300_176328301CT[1]
  • NM_001006635.3:c.265_266del
  • NM_001319097.2:c.295_296del
  • NM_001319098.2:c.295_296del
  • NM_006554.5:c.295_296delMANE SELECT
  • NP_001006636.1:p.Ser88_Leu89insTer
  • NP_001306026.1:p.Ser98_Leu99insTer
  • NP_001306027.1:p.Ser98_Leu99insTer
  • NP_006545.1:p.Ser98_Leu99insTer
  • NC_000002.11:g.177193028CT[1]
  • NM_006554.4:c.294_295delTC
  • NM_006554.4:c.295_296del
Links:
OMIM: 608555.0005; dbSNP: rs768727228
NCBI 1000 Genomes Browser:
rs768727228
Molecular consequence:
  • NM_001006635.3:c.265_266del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001319097.2:c.295_296del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001319098.2:c.295_296del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_006554.5:c.295_296del - nonsense - [Sequence Ontology: SO:0001587]
Functional consequence:
Uncertain function

Condition(s)

Name:
Mandibuloacral dysplasia progeroid syndrome
Identifiers:
MONDO: MONDO:0030880; MedGen: C5436867; OMIM: 619127

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001451355OMIM
no assertion criteria provided
Pathogenic
(Dec 16, 2020)
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

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.

Elouej S, Harhouri K, Le Mao M, Baujat G, Nampoothiri S, Kayserili H, Menabawy NA, Selim L, Paneque AL, Kubisch C, Lessel D, Rubinsztajn R, Charar C, Bartoli C, Airault C, Deleuze JF, Rötig A, Bauer P, Pereira C, Loh A, Escande-Beillard N, Muchir A, et al.

Nat Commun. 2020 Sep 11;11(1):4589. doi: 10.1038/s41467-020-18146-9. Erratum in: Nat Commun. 2020 Oct 19;11(1):5349. doi: 10.1038/s41467-020-19290-y.

PubMed [citation]
PMID:
32917887
PMCID:
PMC7486921

Details of each submission

From OMIM, SCV001451355.1

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

Description

In an Ecuadorian boy (patient 5) with mandibuloacral dysplasia progeroid syndrome (MDPS; 619127), Elouej et al. (2020) identified a homozygous 2-bp deletion (c.294_295delTC, NM_006554.4) in exon 6 of the MTX2 gene, resulting in a leu99-to-ter (L99X) substitution. The mutation was identified by whole-exome sequencing. The variant was not found in the dbSNP (build 144), 1000 Genomes Project, Exome Variant Server, or gnomAD databases. The parents were not known to be consanguineous but they were born in the same region of Ecuador; in addition, the patient's exome data showed regions of homozygosity (ROH) totaling 34 Mb, suggesting ancient inbreeding. The MTX2 mutation was located within the largest autosomal ROH of 5 Mb.

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

Last Updated: Jul 15, 2024