Kentaro Mori1, Hideaki Moteki2, Yumiko Kobayashi3, Hela Azaiez4, Kevin T Booth4, Shin-Ya Nishio5, Hiroaki Sato3, Richard J H Smith4, Shin-Ichi Usami6. 1. Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan. 2. Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA. 3. Department of Otolaryngology, Iwate Medical University School of Medicine, Iwate, Japan. 4. Department of Otolaryngology-Head and Neck Surgery, Molecular Otolaryngology & Renal Research Labs, University of Iowa Hospitals and Clinics, Iowa City, IA, USA. 5. Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan. 6. Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan usami@shinshu-u.ac.jp.
Abstract
OBJECTIVE: We present 2 families that were identified with novel mutations in LOXHD1 as a cause of nonprogressive hearing loss. METHODS: One thousand three hundred fourteen (1314) Japanese subjects with sensorineural hearing loss from unrelated families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were performed to identify the genetic cause of hearing loss. RESULTS: Two patients in 1 family affected with homozygous mutation c.879+1G>A in LOXHD1 showed profound congenital hearing loss, whereas 2 patients in another family with compound heterozygous mutations, c.5869G>T (p.E1957X) and c.4480C>T (p.R1494X), showed moderate to severe hearing loss. CONCLUSION: Mutations in LOXHD1 are extremely rare, and these cases are the first identified in a Japanese population. The genotype-phenotype correlation in LOXHD1 is still unclear. The differences in phenotypes in each patient might be the result of the nature of the mutations or the location on the gene, or be influenced by a genetic modifier.
OBJECTIVE: We present 2 families that were identified with novel mutations in LOXHD1 as a cause of nonprogressive hearing loss. METHODS: One thousand three hundred fourteen (1314) Japanese subjects with sensorineural hearing loss from unrelated families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were performed to identify the genetic cause of hearing loss. RESULTS: Two patients in 1 family affected with homozygous mutation c.879+1G>A in LOXHD1 showed profound congenital hearing loss, whereas 2 patients in another family with compound heterozygous mutations, c.5869G>T (p.E1957X) and c.4480C>T (p.R1494X), showed moderate to severe hearing loss. CONCLUSION: Mutations in LOXHD1 are extremely rare, and these cases are the first identified in a Japanese population. The genotype-phenotype correlation in LOXHD1 is still unclear. The differences in phenotypes in each patient might be the result of the nature of the mutations or the location on the gene, or be influenced by a genetic modifier.
Authors: Aaron McKenna; Matthew Hanna; Eric Banks; Andrey Sivachenko; Kristian Cibulskis; Andrew Kernytsky; Kiran Garimella; David Altshuler; Stacey Gabriel; Mark Daly; Mark A DePristo Journal: Genome Res Date: 2010-07-19 Impact factor: 9.043
Authors: A Eliot Shearer; E Ann Black-Ziegelbein; Michael S Hildebrand; Robert W Eppsteiner; Harini Ravi; Swati Joshi; Angelica C Guiffre; Christina M Sloan; Scott Happe; Susanna D Howard; Barbara Novak; Adam P Deluca; Kyle R Taylor; Todd E Scheetz; Terry A Braun; Thomas L Casavant; William J Kimberling; Emily M Leproust; Richard J H Smith Journal: J Med Genet Date: 2013-06-26 Impact factor: 6.318
Authors: D Vozzi; A Morgan; D Vuckovic; A D'Eustacchio; K Abdulhadi; E Rubinato; R Badii; P Gasparini; G Girotto Journal: Gene Date: 2014-03-20 Impact factor: 3.688
Authors: Oscar Diaz-Horta; Duygu Duman; Joseph Foster; Aslı Sırmacı; Michael Gonzalez; Nejat Mahdieh; Nikou Fotouhi; Mortaza Bonyadi; Filiz Başak Cengiz; Ibis Menendez; Rick H Ulloa; Yvonne J K Edwards; Stephan Züchner; Susan Blanton; Mustafa Tekin Journal: PLoS One Date: 2012-11-30 Impact factor: 3.240
Authors: Marjo K Hytönen; Julia E Niskanen; Meharji Arumilli; Casey A Brookhart-Knox; Jonas Donner; Hannes Lohi Journal: Hum Genet Date: 2021-05-13 Impact factor: 4.132