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NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) AND DEJERINE-SOTTAS SYNDROME, AUTOSOMAL DOMINANT

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 1993
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:
RCV000015233.25

Allele description [Variation Report for NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)]

NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)

Gene:
MPZ:myelin protein zero [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.3
Genomic location:
Preferred name:
NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)
HGVS:
  • NC_000001.11:g.161306414C>G
  • NG_008055.1:g.8559G>C
  • NM_000530.8:c.499G>CMANE SELECT
  • NM_001315491.2:c.499G>C
  • NP_000521.2:p.Gly167Arg
  • NP_001302420.1:p.Gly167Arg
  • LRG_256t1:c.499G>C
  • LRG_256:g.8559G>C
  • LRG_256p1:p.Gly167Arg
  • NC_000001.10:g.161276204C>G
  • NM_000530.6:c.499G>C
  • P25189:p.Gly167Arg
Protein change:
G167R; GLY167ARG
Links:
UniProtKB: P25189#VAR_004544; OMIM: 159440.0005; dbSNP: rs121913586
NCBI 1000 Genomes Browser:
rs121913586
Molecular consequence:
  • NM_000530.8:c.499G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001315491.2:c.499G>C - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000035492OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 1993) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).

Hayasaka K, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, Nicholson GA, Ouvrier RA, Tachi N.

Nat Genet. 1993 Nov;5(3):266-8.

PubMed [citation]
PMID:
7506095

The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood.

Ouvrier RA, McLeod JG, Conchin TE.

Brain. 1987 Feb;110 ( Pt 1):121-48.

PubMed [citation]
PMID:
3467805

Details of each submission

From OMIM, SCV000035492.1

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

Description

Hayasaka et al. (1993) identified a gly167-to-arg mutation in the transmembrane domain of MPZ in case 20 of Ouvrier et al. (1987); the patient was thought to have typical Dejerine-Sottas syndrome (145900) except that his spinal fluid protein level was not elevated. The patient was heterozygous for the mutation, which was absent in the parents and in 100 unrelated healthy controls.

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

Last Updated: Sep 29, 2024