NM_000304.4(PMP22):c.36C>A (p.His12Gln) AND Dejerine-Sottas syndrome, autosomal dominant

Clinical significance:Pathogenic (Last evaluated: Jan 1, 1995)

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:
RCV000008949.5

Allele description [Variation Report for NM_000304.4(PMP22):c.36C>A (p.His12Gln)]

NM_000304.4(PMP22):c.36C>A (p.His12Gln)

Gene:
PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p12
Genomic location:
Preferred name:
NM_000304.4(PMP22):c.36C>A (p.His12Gln)
HGVS:
  • NC_000017.11:g.15260692G>T
  • NG_007949.1:g.9636C>A
  • NM_000304.4:c.36C>AMANE SELECT
  • NM_001281455.2:c.36C>A
  • NM_001281456.2:c.36C>A
  • NM_001330143.2:c.36C>A
  • NM_153321.3:c.36C>A
  • NM_153322.3:c.36C>A
  • NP_000295.1:p.His12Gln
  • NP_001268384.1:p.His12Gln
  • NP_001268385.1:p.His12Gln
  • NP_001317072.1:p.His12Gln
  • NP_696996.1:p.His12Gln
  • NP_696997.1:p.His12Gln
  • LRG_263:g.9636C>A
  • NC_000017.10:g.15164009G>T
  • NM_000304.3:c.36C>A
  • Q01453:p.His12Gln
Protein change:
H12Q; HIS12GLN
Links:
UniProtKB: Q01453#VAR_006359; OMIM: 601097.0008; dbSNP: rs104894622
NCBI 1000 Genomes Browser:
rs104894622
Molecular consequence:
  • NM_000304.4:c.36C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281455.2:c.36C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281456.2:c.36C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330143.2:c.36C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153321.3:c.36C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153322.3:c.36C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dejerine-Sottas syndrome, autosomal dominant
Identifiers:
MedGen: C4016264

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000029159OMIMno assertion criteria providedPathogenic
(Jan 1, 1995)
germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Déjérine-Sottas neuropathy is associated with a de novo PMP22 mutation.

Valentijn LJ, Ouvrier RA, van den Bosch NH, Bolhuis PA, Baas F, Nicholson GA.

Hum Mutat. 1995;5(1):76-80.

PubMed [citation]
PMID:
7728152

Details of each submission

From OMIM, SCV000029159.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

Valentijn et al. (1995) identified a de novo mutation in the PMP22 gene of a patient with Dejerine-Sottas neuropathy (DSS; 145900). Single-strand conformation analysis of PCR-amplified DNA fragments showed an additional fragment for exon 1 in the patient, which was absent in the unaffected parents. Sequence analysis showed a de novo C-to-A transversion at nucleotide 85 that resulted in an amino acid substitution his12-to-gln (H12Q) in the first transmembrane domain of PMP22. The patient had been described as case 13 by Ouvrier et al. (1987). At 4 years of age, the child's height and weight were below the 3rd centile. There was generalized weakness of mild to moderate severity. All tendon reflexes were absent, except the triceps. Peripheral nerves were clinically enlarged. There was moderate truncal ataxia. Sensation was normal, except for mild loss of vibration sensation and diminished 2-point discrimination on the feet. Sensory action potentials could not be recorded from the right median or sural nerves. Motor nerve conduction velocity in the median nerve was 7 m/sec. Sural nerve biopsy at 2 years of age had shown reduced density of myelinated fibers, and all fibers were thinly myelinated and frequently surrounded by onion bulbs.

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

Last Updated: Nov 27, 2021

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