Description:
DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
GAP JUNCTION PROTEIN, BETA-2; GJB2 (CONNEXIN 26; CX26)
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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B-Lymphocyte
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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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Filipino
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Ethnicity
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Not Hispanic/Latino
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Country of Origin
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USA
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Family History
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N
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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 |
GJB2 |
| Chromosomal Location |
13q11-q12 |
| Allelic Variant 1 |
; |
| Identified Mutation |
GLY4ASP |
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| Gene |
GJB2 |
| Chromosomal Location |
13q11-q12 |
| Allelic Variant 2 |
; |
| Identified Mutation |
GLY4ASP |
| Remarks |
Clinically affected; symptom onset at approximately age 3 or 4 years; diagnosed at age 6 years by a specialist (ENT/Audiology); bilateral sensorineural hearing loss that is severe in the lower frequencies rising to mild in the higher frequencies; history of chronic ear infections; noted issues with articulation; normal temporal bone CT; normal EKG; sequencing revealed that subject is homozygous for a c.11G>A mutation in the GJB2 gene resulting in p.Gly4Asp; subject also has a mitochondrial variant associated with non-syndromic hearing loss (mtDNA: 963T>C); normal SNP array: arr (1-22,X)x2 (Human Genome Build 37, hg19, 2009); assistive devices include: hearing aid; surgeries include: bilateral myringotomy and tube placement (BMT), tonsillectomy and adenoidectomy; Patient also has a mitochondrial variant associated with non-syndromic hearing loss: mtDNA:963T>C. |
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