Description:
DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49
MARVEL DOMAIN-CONTAINING PROTEIN 2; MARVELD2
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Class |
Disorders of Uncertain Biochemical Etiology |
| 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
|
East Indian
|
|
Ethnicity
|
PAKISTANI
|
|
Family Member
|
1
|
|
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 |
MARVELD2 |
| Chromosomal Location |
5q12.3-q14.1 |
| Allelic Variant 1 |
610572.0002; DEAFNESS, AUTOSOMAL RECESSIVE 49 |
| Identified Mutation |
IVS4+2delTGAG; In 2 Pakistani families with DFNB49 (610513), Riazuddin et al. (Am J Hum Genet 79:1040-1051, 2006) found deletion of nucleotides TGAG at positions 2 through 5 in the donor site of IVS4 of the MARVELD2 gene.
|
| |
| Gene |
MARVELD2 |
| Chromosomal Location |
5q12.3-q14.1 |
| Allelic Variant 2 |
610572.0002; DEAFNESS, AUTOSOMAL RECESSIVE 49 |
| Identified Mutation |
IVS4+2delTGAG; In 2 Pakistani families with DFNB49 (610513), Riazuddin et al. (Am J Hum Genet 79:1040-1051, 2006) found deletion of nucleotides TGAG at positions 2 through 5 in the donor site of IVS4 of the MARVELD2 gene.
|
| Remarks |
Clinically affected; hearing loss confirmed by audiometry; product of consanguineous marriage; one affected sister; father is GM20173; donor subject is homozygous for a donor site mutation: a deletion of TGAG at positons 2-5 in the cryptic splice-donor site of IVS4 (IVS4+2delTGAG) of the MARVELD2 (TRIC) gene [the mRNA uses the site that introduces 23 bp of intron 4 which results in a premature stop codon (p.K445fsX461)] |
| Riazuddin S, Ahmed ZM, Fanning AS, Lagziel A, Kitajiri S, Ramzan K, Khan SN, Chattaraj P, Friedman PL, Anderson JM, Belyantseva IA, Forge A, Riazuddin S, Friedman TB, Tricellulin is a tight-junction protein necessary for hearing American journal of human genetics79:1040-51 2006 |
| PubMed ID: 17186462 |
|
|