GM25493

GM25493 LCL from B-Lymphocyte

Description:

DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A
GAP JUNCTION PROTEIN, BETA-2; GJB2 (CONNEXIN 26; CX26)

Affected:

Yes

Sex:

Female

Age:

8 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Cell Type

B-Lymphocyte

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

Filipino

Ethnicity

Not Hispanic/Latino

Country of Origin

USA

Family History

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

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.