NM_000304.3(PMP22):c.206T>A (p.Met69Lys) AND Dejerine-Sottas syndrome, autosomal dominant

Clinical significance:Pathogenic (Last evaluated: Nov 1, 1993)

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:
RCV000008947.4

Allele description [Variation Report for NM_000304.3(PMP22):c.206T>A (p.Met69Lys)]

NM_000304.3(PMP22):c.206T>A (p.Met69Lys)

Gene:
PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p12
Genomic location:
Preferred name:
NM_000304.3(PMP22):c.206T>A (p.Met69Lys)
HGVS:
  • NC_000017.11:g.15239584A>T
  • NG_007949.1:g.30744T>A
  • NM_000304.3:c.206T>A
  • NP_000295.1:p.Met69Lys
  • LRG_263:g.30744T>A
  • LRG_263p1:p.Met69Lys
  • NC_000017.10:g.15142901A>T
  • NM_000304.2:c.206T>A
  • NR_104017.1:n.332T>A
  • Q01453:p.Met69Lys
Protein change:
M69K; MET69LYS
Links:
UniProtKB: Q01453#VAR_006362; OMIM: 601097.0006; dbSNP: rs104894620
NCBI 1000 Genomes Browser:
rs104894620
Molecular consequence:
  • NM_000304.3:c.206T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104017.1:n.332T>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000029157OMIMno assertion criteria providedPathogenic
(Nov 1, 1993)
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

Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene.

Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR.

Nat Genet. 1993 Nov;5(3):269-73.

PubMed [citation]
PMID:
8275092

Details of each submission

From OMIM, SCV000029157.3

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

Description

Dejerine-Sottas syndrome (DSS; 145900) is characterized by hypertrophic, demyelinating neuropathy. Clinical symptoms are similar to but more severe than those of Charcot-Marie-Tooth disease type 1A (CMT1A; 118220). By mutation analysis of the PMP22 coding region in 2 unrelated Dejerine-Sottas patients, Roa et al. (1993) identified individual missense point mutations present in the heterozygous state. In 1 family, both parents were negative for the mutations, suggesting that it was de novo in origin. One patient had a T-to-A transversion predicting a met69-to-lys (M69K) substitution, whereas the other had a C-to-T transition predicting a ser72-to-leu (S72L; 601097.0007) substitution. The patient with the M69K substitution had no detectable abnormality at birth but did not begin walking until age 15 months and did so with an abnormal gait. Bilateral pes cavus was noted at age 6, and delayed nerve conduction velocity in the left ulnar nerve was measured at age 7. By age 18, she had severe lower limb weakness necessitating the use of a wheelchair and severe distal sensory loss in all 4 limbs. No other family member was known to be similarly affected. Electron microscopy of sural nerve biopsy demonstrated hypertrophy of the nerve with marked loss or abnormality of myelinated fibers.

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

Last Updated: Jul 21, 2018