Description:
DEAFNESS, AUTOSOMAL RECESSIVE 49; DFNB49
MARVEL DOMAIN-CONTAINING PROTEIN 2; MARVELD2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Uncertain Biochemical Etiology |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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East Indian
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Ethnicity
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PAKISTANI
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
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| Gene |
MARVELD2 |
| Chromosomal Location |
5q12.3-q14.1 |
| Allelic Variant 1 |
610572.0003; DEAFNISS, AUTOSOMAL RECESSIVE 49 |
| Identified Mutation |
IVS4+2T>C; In 4 Pakistani families with DFNB49 (610513), Riazuddin et al. (Am J Hum Genet 79:1040-1051, 2006) demonstrated homozygosity for a donor splice site mutation, IVS4+2T-C, in the MARVELD2 gene.
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| Gene |
MARVELD2 |
| Chromosomal Location |
5q12.3-q14.1 |
| Allelic Variant 2 |
610572.0003; DEAFNISS, AUTOSOMAL RECESSIVE 49 |
| Identified Mutation |
IVS4+2T>C; In 4 Pakistani families with DFNB49 (610513), Riazuddin et al. (Am J Hum Genet 79:1040-1051, 2006) demonstrated homozygosity for a donor splice site mutation, IVS4+2T-C, in the MARVELD2 gene.
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| Remarks |
Clinically affected; hearing loss confirmed by audiometry; product of consanguineous marriage; two affected siblings; father is GM20192; donor subject is homozygous for a donor splice site mutation: IVS4+2T>C in the MARVELD2 (TRIC) gene which causes the skipping of exon 4 resulting in a frameshift and premature termination of translation (p.C395fsX403) |
| 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 |
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