Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans

• Published in: PLoS genetics Vol. 16; no. 4; p. e1008643
• Main Authors: Mutai, Hideki, Wasano, Koichiro, Momozawa, Yukihide, Kamatani, Yoichiro, Miya, Fuyuki, Masuda, Sawako, Morimoto, Noriko, Nara, Kiyomitsu, Takahashi, Satoe, Tsunoda, Tatsuhiko, Homma, Kazuaki, Kubo, Michiaki, Matsunaga, Tatsuo
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 01.04.2020; Public Library of Science (PLoS)
• Subjects: Biology and Life Sciences; Cochlea; Congenital diseases; Deafness; Ears & hearing; Funding; Hair; Hearing loss; Heredity; Homeostasis; Hospitals; Immunohistochemistry; Laboratories; Mathematics; Medical research; Medicine; Medicine and Health Sciences; Multiplication & division; Otolaryngology; Research and Analysis Methods; Software; Supervision; Surgery; Transcription; Twins; Chicago Illinois; United States > US; Illinois; Japan

Hereditary hearing loss is challenging to diagnose because of the heterogeneity of the causative genes. Further, some genes involved in hereditary hearing loss have yet to be identified. Using whole-exome analysis of three families with congenital, severe-to-profound hearing loss, we identified a mi...