Description:
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B
MYELIN PROTEIN ZERO; MPZ
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Ethnicity
|
SWEDISH
|
|
Family History
|
Y
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
MPZ |
| Chromosomal Location |
1q22 |
| Allelic Variant 1 |
S140T; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1b |
| Identified Mutation |
SER140THR |
| Remarks |
Clinically affected; symptom onset at age 42 years; diagnosis at age 45 years; loss of balance; cannot stand alone without hanging onto something; severe lumbar spinal stenosis- canal size down to 6 to 7mm at L4-5; both legs weak with greater weakness on left; weakened dorsiflexion; abnormal needle EMG examination results-subacute neuropathic changes detected in all muscles sampled, including distal and proximal muscles, evidence of multilevel chronic L-S radiculopathy affecting muscles from the L3 to S1-2 on the left; heterozygous for a T>A transversion at nucleotide 418 of the MPZ gene resulting in the substitution of threonine for serine at codon 140 [Ser140Thr (S140T)]-this sequence alteration was reported by Athena diagnostics as an indeterminate result; no sequence alterations were identified in the following tests PMP22 dup/del, Cx32 sequencing, PMP22 sequencing, EGR2 sequencing, and NF-L sequencing; subject’s daughter tested negative for CMTX mutations; assistive devices include: orthotics, hearing aid, and walker; occupational therapy; affected family members include:1 daughter, 2 maternal cousins, and 1 maternal uncle. |
|