Description:
DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
GAP JUNCTION PROTEIN, BETA-2; GJB2 (CONNEXIN 26; CX26)
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
B-Lymphocyte
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
Chinese
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Country of Origin
|
USA
|
|
Family History
|
Y
|
|
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 |
GJB2 |
| Chromosomal Location |
13q11-q12 |
| Allelic Variant 1 |
stop; |
| Identified Mutation |
235delC; Leu79CysfsX3 |
| |
| 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). |
|
|