Description:
DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
GAP JUNCTION PROTEIN, BETA-2; GJB2 (CONNEXIN 26; CX26)
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 |
Cell Type
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B-Lymphocyte
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
DNA from LCL
|
Race
|
White
|
Country of Origin
|
USA
|
Family History
|
N
|
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 |
; |
Identified Mutation |
GLU120DEL |
|
Gene |
GJB2 |
Chromosomal Location |
13q11-q12 |
Allelic Variant 1 |
; |
Identified Mutation |
MET195ILE |
Remarks |
Clinically affected; symptom onset at birth; diagnosed at age 7 months by a specialist (ENT/audiology); severe profound bilateral sensorineural hearing loss; normal temporal bone MRI; sequencing revealed the subject is a double heterozygote with two mutations in GJB2 gene: c.358_360delGAG resulting in p.Glu120del and c.585G>A resulting in p.Met195Ile; subject negative for mutations in GJB6 and PAX3 genes; normal SNP array: arr(1-22,X)x2 (Human Genome Build 37, hg19, 2009); assistive devices include: hearing aids. |
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