Description:
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED; CMTX1
GAP JUNCTION PROTEIN, BETA-1, 32-KD; GJB1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Race
|
White
|
|
Family Member
|
3
|
|
Relation to Proband
|
sister
|
|
Confirmation
|
Clinical summary/Case history
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
6 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis |
| |
| Gene |
GJB1 |
| Chromosomal Location |
Xq13.1 |
| Allelic Variant 1 |
304040.0003; CHARCOT-MARIE-TOOTH DISEASE, X-LINKED |
| Identified Mutation |
VAL139MET; In a family with X-linked Charcot-Marie-Tooth disease (302800), Bergoffen et al [Science 262: 2039 (1993)] found a G-to-A transition in codon 139 of the CX32 gene, resulting in a substitution of methionine for valine (V139M) in the third transmembrane domain. |
| Remarks |
Clinically affected; hypertrophic variety of CMT disease; diagnosis confirmed by nerve conductivity tests; donor subject has one allele with a G>A transition of the GJB1 (Cx32) gene resulting in a substitution of methionine for valine at codon 139 [Val139Met (V139M)]; affected brother is GM04598; affected mother is GM04597; affected daughter is GM04595; affected great aunt is GM04596; unaffected spouse is GM04593. |
| Bone LJ, Dahl N, Lensch MW, Chance PF, Kelly T, Le Guern E, Magi S, Parry G, Shapiro H, Wang S, et al, New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease. Neurology45:1863-6 1995 |
| PubMed ID: 7477983 |
| |
| Heimler A, Friedman E, Rosenthal AD, Naevoid basal cell carcinoma syndrome and Charcot-Marie-Tooth disease: two autosomal dominant disorders segregating in a family. J Med Genet15:288-91 1978 |
| PubMed ID: 712760 |
| |
| Swift MR, Horowitz SL, Familial jaw cysts in Charcot-Marie-Tooth disease. J Med Genet6:193-5 1969 |
| PubMed ID: 5801467 |
| dbSNP |
dbSNP ID: 20107 |
| Gene Cards |
GJB1 |
| Gene Ontology |
GO:0005922 connexon complex |
|
GO:0006810 transport |
|
GO:0007267 cell-cell signaling |
|
GO:0007399 neurogenesis |
|
GO:0015285 connexon channel activity |
|
GO:0016021 integral to membrane |
| NCBI Gene |
Gene ID:2705 |
| NCBI GTR |
302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1 |
|
304040 GAP JUNCTION PROTEIN, BETA-1; GJB1 |
| OMIM |
302800 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1 |
|
304040 GAP JUNCTION PROTEIN, BETA-1; GJB1 |
| Omim Description |
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY, X-LINKED; CMTX1 |
| |
CMT2, FORMERLY |
| |
CMTX |
| |
HEREDITARY MOTOR AND SENSORY NEUROPATHY, X-LINKED |
| |
HMSN, X-LINKED |
| Passage Frozen |
6 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|