Description:
DEAFNESS, AUTOSOMAL RECESSIVE 28; DFNB28
TRIO- AND F-ACTIN-BINDING PROTEIN; TRIOBP
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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 |
TRIOBP |
| Chromosomal Location |
22q13.1 |
| Allelic Variant 1 |
609761.0005; DEAFNESS, AUTOSOMAL RECESSIVE 28 |
| Identified Mutation |
ARG1068TER; In a Pakistani family, Riazuddin et al. (Am J Hum Genet 78:137-143, 2006) found a nonsense mutation, arg1068 to stop (R1068X), in exon 6 of the long isoform of TRIOBP as the cause of nonsyndromic recessive deafness (DFNB28; 609823). The mutation arose from a C-to-T transition at nucleotide 3202. |
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| Gene |
TRIOBP |
| Chromosomal Location |
22q13.1 |
| Allelic Variant 2 |
609761.0005; DEAFNESS, AUTOSOMAL RECESSIVE 28 |
| Identified Mutation |
ARG1068TER; In a Pakistani family, Riazuddin et al. (Am J Hum Genet 78:137-143, 2006) found a nonsense mutation, arg1068 to stop (R1068X), in exon 6 of the long isoform of TRIOBP as the cause of nonsyndromic recessive deafness (DFNB28; 609823). The mutation arose from a C-to-T transition at nucleotide 3202. |
| Remarks |
Clinically affected; hearing loss confirmed by audiometry; product of consanguineous marriage; father of one affected son; two affected siblings; mother is GM20183; donor subject is homozygous for a nonsense mutation: a C>T transion at nucleotide 3202 (3202C>T) in exon 6 of the long isoform of the TRIOBP gene, resulting in an Arg1068 to stop [Arg1068Ter (R1068X)] |
| Riazuddin S, Khan SN, Ahmed ZM, Ghosh M, Caution K, Nazli S, Kabra M, Zafar AU, Chen K, Naz S, Antonellis A, Pavan WJ, Green ED, Wilcox ER, Friedman PL, Morell RJ, Riazuddin S, Friedman TB, Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness American journal of human genetics78:137-43 2005 |
| PubMed ID: 16385457 |
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