Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish.
Santos-Cortez RL, Lee K, Giese AP, Ansar M, Amin-Ud-Din M, Rehn K, Wang X, Aziz A, Chiu I, Hussain Ali R, Smith JD; University of Washington Center for Mendelian Genomics; Shendure J, Bamshad M, Nickerson DA, Ahmed ZM, Ahmad W, Riazuddin S, Leal SM.
Santos-Cortez RL, et al.
Hum Mol Genet. 2014 Jun 15;23(12):3289-98. doi: 10.1093/hmg/ddu042. Epub 2014 Jan 29.
Hum Mol Genet. 2014.
PMID: 24482543
Free PMC article.
Individuals who are homozygous for this mutation had symmetric, mild-to-moderate mixed hearing impairment. Zebrafish adcy1b morphants had no FM1-43 dye uptake and lacked startle response, indicating hair cell dysfunction and gross hearing impairment. In the m …
Individuals who are homozygous for this mutation had symmetric, mild-to-moderate mixed hearing impairment. Zebrafish ad …