title: Moderate hearing loss associated with a novel KCNQ4 non-truncating mutation located near the N-terminus of the pore helix.
abstract: Genetic mutation is one of the causative factors for idiopathic progressive hearing loss. A patient with late-onset, moderate, and high-frequency hearing loss was found to have a novel, heterozygous KCNQ4 mutation, c.806_808delCCT, which led to a p.Ser260del located between S5 and the pore helix (PH). Molecular modeling analysis suggested that the p.Ser269del mutation could cause structural distortion and change in the electrostatic surface potential of the KCNQ4 channel protein, which may impede K+ transport. The present study supports the idea that a non-truncating mutation around the N-terminus of PH may be related to moderate hearing loss.
authors: Department of Otolaryngology, Head and Neck Surgery, Keio University, School of Medicine, 35 Shinanomachi, Shinjuku, Tokyo 160-8582, Japan.
authors: Takahisa
authors: T
authors: Watabe
authors: Tatsuo
authors: T
authors: Matsunaga
authors: Kazunori
authors: K
authors: Namba
authors: Hideki
authors: H
authors: Mutai
authors: Yasuhiro
authors: Y
authors: Inoue
authors: Kaoru
authors: K
authors: Ogawa
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D005260:Female; D006316:Hearing Loss, High-Frequency / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D051656:KCNQ Potassium Channels / Q000737:chemistry* / Q000235:genetics*; D008958:Models, Molecular; D008969:Molecular Sequence Data; D010375:Pedigree; D017433:Protein Structure, Secondary / Q000235:genetics; D017384:Sequence Deletion; D012694:Serine / Q000737:chemistry / Q000235:genetics
chemical_list: D051656:KCNQ Potassium Channels; C117367:KCNQ4 protein, human; D012694:Serine