Deafness, autosomal recessive
| Disorder | |
|---|---|
| OMIM #: | #220290 (Click to access OMIM database) |
| Disorder: | Deafness, autosomal recessive |
| Also known as: | DEAFNESS, DIGENIC, GJB2/GJB6 DEAFNESS, DIGENIC, GJB2/GJB3 DEAFNESS, AUTOSOMAL RECESSIVE 1A (DFNB1A) |
| Clinical | |
| Phenotype: | sensorineural hearing loss, vestibular dysfunction |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive, digenic dominant |
| Mutations | |
| 1 Amish, Old Order Mennonite, Hutterite | |
| Gene: | GJB2 |
| Base Change: | c.35delG |
| Amino Acid Change: | |
| 2 Unknown / Other Mennonite | |
| Gene: | GJB2 |
| Base Change: | T>C, at nucleotide 101 |
| Amino Acid Change: | |
| Last updated: | 2022-11-03 |
| References |
|---|
| Boycott KM, Parboosingh JS, Chodirker BN, Lowry RB, McLeod DR, Morris J, Greenberg CR, Chudley AE, Bernier FP, Midgley J, Møller LB, Innes AM. (2008) Clinical genetics and the Hutterite population: a review of Mendelian disorders. Am J Med Genet A Apr 15;146A(8):1088-98. PubMed ID: 18348266 |
| Strauss KA, Puffenberger EG. (2009) Genetics, medicine, and the Plain people. Annu Rev Genomics Hum Genet 10:513-36. PubMed ID: 19630565 |
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