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NM_000530.8(MPZ):c.188C>G (p.Ser63Cys) 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:
RCV000015232.21

Allele description [Variation Report for NM_000530.8(MPZ):c.188C>G (p.Ser63Cys)]

NM_000530.8(MPZ):c.188C>G (p.Ser63Cys)

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.188C>G (p.Ser63Cys)
HGVS:
  • NC_000001.11:g.161307304G>C
  • NG_008055.1:g.7669C>G
  • NM_000530.8:c.188C>GMANE SELECT
  • NM_001315491.2:c.188C>G
  • NP_000521.2:p.Ser63Cys
  • NP_001302420.1:p.Ser63Cys
  • LRG_256t1:c.188C>G
  • LRG_256:g.7669C>G
  • LRG_256p1:p.Ser63Cys
  • NC_000001.10:g.161277094G>C
  • NM_000530.6:c.188C>G
  • P25189:p.Ser63Cys
Protein change:
S63C; SER63CYS
Links:
UniProtKB: P25189#VAR_004508; OMIM: 159440.0004; dbSNP: rs121913585
NCBI 1000 Genomes Browser:
rs121913585
Molecular consequence:
  • NM_000530.8:c.188C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001315491.2:c.188C>G - 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
SCV000035491OMIM
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

Two cases of congenital hypomyelination neuropathy.

Tachi N, Ishikawa Y, Minami R.

Brain Dev. 1984;6(6):560-5.

PubMed [citation]
PMID:
6099985

Details of each submission

From OMIM, SCV000035491.1

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

Description

Hayasaka et al. (1993) found a mutation of the MPZ gene in a 7-year-old boy with delayed motor development, hypotonia, muscle weakness, and sensory disturbance thought to be typical of Dejerine-Sottas syndrome (145900), or hereditary motor and sensory neuropathy type III (HMSN3). The patient was case 1 of Tachi et al. (1984). Cysteine was substituted for serine-63 in the extracellular domain. 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