Deafness, autosomal recessive 84
OMIM:613391Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the ear and mastoid process
Mutations
| Gene Symbol | PTPRQ |
|---|---|
| Reference transcript | NM_001145026.1 |
| DNA Change | c.1369A>G |
| A.A. Change | p.Arg457Gly |
| Exon/Intron | exon 19 |
| Mutation Type | substitution |
| Reference | Schraders M, Oostrik J, Huygen PL, Strom TM, van Wijk E, Kunst HP, Hoefsloot LH, Cremers CW, Admiraal RJ, Kremer H.Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. Am J Hum Genet. 2010 Apr 9;86(4):604-10. |