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J-GLOBAL ID：201602233526906869   Reference number：16A1080028

Clinical characteristics of a Japanese family with hearing loss accompanied by compound heterozygous mutations in LOXHD1

LOXHD1における複合ヘテロ接合体突然変異を伴う難聴を有する日本人家系の臨床特性

Author (7)： Minami Shujiro B. (National Hospital Organization Tokyo Medical Center, Department of Otolaryngology, 2-5-1 Higashigaoka, Meguroku, Tokyo 152-8901, Japan) ,  Minami Shujiro B. (National Hospital Organization Tokyo Medical Center, National Institute of Sensory Organs, 2-5-1 Higashigaoka, Meguroku, Tokyo 152-8901, Japan) ,  Mutai Hideki (National Hospital Organization Tokyo Medical Center, National Institute of Sensory Organs, 2-5-1 Higashigaoka, Meguroku, Tokyo 152-8901, Japan) ,  Namba Kazunori (National Hospital Organization Tokyo Medical Center, National Institute of Sensory Organs, 2-5-1 Higashigaoka, Meguroku, Tokyo 152-8901, Japan) ,  Sakamoto Hirokazu (Hyogo Prefectural Kobe Children’s Hospital, Department of Otolaryngology, 1-1-1 Takakuradai, Sumaku, Kobe, Hyogo 654-0091, Japan) ,  Matsunaga Tatsuo (National Hospital Organization Tokyo Medical Center, Department of Otolaryngology, 2-5-1 Higashigaoka, Meguroku, Tokyo 152-8901, Japan) ,  Matsunaga Tatsuo (National Hospital Organization Tokyo Medical Center, National Institute of Sensory Organs, 2-5-1 Higashigaoka, Meguroku, Tokyo 152-8901, Japan)
Material： Auris Nasus Larynx  (International Journal of ORL & HNS)
Volume： 43  Issue： 6  Page： 609-613  Publication year： Dec. 2016 
JST Material Number： W2247A  ISSN： 0385-8146  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Thesaurus term： missense mutation ,...
Semi thesaurus term： LOXHD1 ,...

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Author keywords (6)： LOXHD1 ,  Targeted next-generation sequencing ,  DFNB77 ,  Autosomal-recessive nonsyndromic hearing loss ,  PLAT domain ,  Molecular modeling

JST classification (1)： Diseases of ear,nose,pharynx and larynx  (GQ03000X)

Reference (19)：

• Morton CC, Nance WE. Newborn hearing screening a silent revolution. N Engl J Med 2006;354:2151-64.
• Shearer AE, DeLuca AP, Hildebrand MS, Taylor KR, Gurrola 2nd J, Scherer S, et al. Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci USA 2010;107:21104-9.
• Brownstein Z, Bhonker Y, Avraham KB. High-throughput sequencing to decipher the genetic heterogeneity of deafness. Genome Biol 2012;13:245.
• Mutai H, Suzuki N, Shimizu A, Torii C, Namba K, Morimoto N, et al. Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study. Orphanet J Rare Dis 2013;8:172.
• Oldham ML, Brash AR, Newcomer ME. Insights from the X-ray crystal structure of coral 8R-lipoxygenase: calcium activation via a C2-like domain and a structural basis of product chirality. J Biol Chem 2005;280:39545-52.

Terms in the title (6)： 複合ヘテロ接合体 ,  突然変異 ,  難聴 ,  日本人 ,  家系 ,  臨床