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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Chinese
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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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Y
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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 |
stop; |
| Identified Mutation |
235delC; Leu79CysfsX3 |
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| Gene |
GJB2 |
| Chromosomal Location |
13q11-q12 |
| Allelic Variant 1 |
Stop; |
| Identified Mutation |
176_191del16; Gly59AlafsX18 |
| Remarks |
Clinically affected: bilateral sensorineural hearing loss; born at 35 weeks gestation via C-section due to preeclampsia; in NICU for 9 days where she failed her newborn hearing screen and was treated for jaundice; passed her follow up newborn hearing screen at 3 weeks; at 12 months an ABR was completed due to speech delay; Also completed at 12 months: ophthalmology exam, temporal bone MRI, temporal bone CT and EKG, all with normal results; normal motor development: walked at 12 months ; speech delay (no words at 18 months); eczema; treatments: cochlear implants; therapies: speech therapy; donor subject is a compound heterozygote for c.235delC mutation(resulting in p.Leu79CysfsX3) and c.176_191del16 mutation (resulting in p.Gly59AlafsX18) in the GJB2 gene; twin brother carries same mutations and also has bilateral sensorineural hearing loss(not in repository). |
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