Description:
MYOPATHY, CENTRONUCLEAR, 1; CNM1
TITIN; TTN
GAP JUNCTION PROTEIN, BETA-2; GJB2 (CONNEXIN 26; CX26)
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Muscular Dystrophies
CMD Specific |
| 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
|
Not Hispanic/Latino
|
|
Ethnicity
|
Irish
|
|
Country of Origin
|
USA
|
|
Family Member
|
2
|
|
Family History
|
Y
|
|
Relation to Proband
|
father
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
TTN |
| Chromosomal Location |
2q31.2 |
| Allelic Variant 1 |
VAL10952LEU; CENTRONUCLEAR MYOPATHY 1 |
| Identified Mutation |
32854 G>C; Titin, or connectin, is a giant muscle protein expressed in the cardiac and skeletal muscles that spans half of the sarcomere from Z line to M line. Titin plays a key role in muscle assembly, force transmission at the Z line, and maintenance of resting tension in the I band region (Itoh-Satoh et al., 2002). |
| |
| Gene |
GJB2 |
| Chromosomal Location |
13q11-q12 |
| Allelic Variant 1 |
121011.0005; DEAFNESS, AUTOSOMAL RECESSIVE, 1; DFNB1 |
| Identified Mutation |
1-BP DEL, 35G; A mutation consisting of deletion of 1 guanine (G) in a run of 6 guanines extending from position 30 to position 35 in the GJB2 gene has been observed by several groups. Some referred to the deleted nucleotide as 30G (the first of the 6 Gs), whereas others referred to it as 35G. The second mutation found by Carrasquillo et al. [Hum. Molec. Genet. 6: 2163-2172 (1997)] to be responsible for nonsyndromic recessive deafness (220290) in a Muslim-Israeli village in the lower Galilee was a deletion of a guanine residue at cDNA position 35 (35delG), causing a frameshift of the coding sequence leading to premature chain termination at the twelfth amino acid. |
| Remarks |
Unaffected carrier; extensive cardiac and muscle examination showed no evidence of cardiomyopathy or skeletal myopathy at age 46; genetic testing revealed that the donor is heterozygous for a mutation in exon 168 of the TTN gene: p.Val10952Leu (GTT>CTT), c.32854G>C; heterozygous mutation detected in the GJB2 gene: 35delG; son with centronuclear myopathy and connexin 26 hearing loss is GM23417-lymphoblast/GM25936-fibroblast; carrier mother of affected son is GM25951 (lymphoblast) and maternal grandmother of affected son is GM25993 (lymphoblast); family is referenced in Neurology (2013) 81:1205-14, PMID:23975875-affected son is subject 314-1. |
| Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH, Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy Neurology81:1205-14 2013 |
| PubMed ID: 23975875 |
|