関: non-syndromic hearing loss、nonsyndromic deafness、nonsyndromic hearing loss

WordNet

used to express refusal or denial or disagreement etc or especially to emphasize a negative statement; "no, you are wrong"
a negative; "his no was loud and clear"
referring to the degree to which a certain quality is present; "he was no heavier than a child" (同)no more
not in any degree or manner; not at all; "he is no better today"
quantifier; used with either mass nouns or plural count nouns for indicating a complete or almost complete lack or zero quantity of; "we have no bananas"; "no eggs left and no money to buy any"; "have you no decency?"; "did it with no help"; "Ill get you there in no time"
partial or complete loss of hearing (同)hearing_loss
the fifth of the seven canonical hours; about 3 p.m.

PrepTutorEJDIC

《名詞の前に置いて》『一つも』(『一人も,少しも』)・・・『ない』 / 《補語につけて》『決して・・・でない』 / 《省略文で》・・・なし;・・・お断り / 《話》少ししか(あまり)・・・ない / (肯定の問いに対して)『いいえ』;(否定の問いに対して)はい,ええ / 《not, norの前に挿入して》『いや』,否 / 《形容詞の前に置その形容詞を否定して》…どころではない / 《比較級の前に置いて》ちっとも…でない,…と全く同じ / 《… or no の形で》…であってもなくても / 《驚き・困惑・不信などを表して》とんでもない / 《単数形で》『拒否』,「『いいえ』」という返事 / 《複数形で》反対[投]票

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/08/19 12:11:02」(JST)

wiki en

Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body.

Genetic changes are related to the following types of nonsyndromic deafness.

DFNA: nonsyndromic deafness, autosomal dominant
DFNB: nonsyndromic deafness, autosomal recessive
DFNX: nonsyndromic deafness, X-linked
nonsyndromic deafness, mitochondrial

Each type is numbered in the order in which it was described. For example, DFNA1 was the first described autosomal dominant type of nonsyndromic deafness. Mitochondrial nonsyndromic deafness involves changes to the small amount of DNA found in mitochondria, the energy-producing centers within cells.

Most forms of nonsyndromic deafness are associated with permanent hearing loss caused by damage to structures in the inner ear. The inner ear consists of three parts: a snail-shaped structure called the cochlea that helps process sound, nerves that send information from the cochlea to the brain, and structures involved with balance. Loss of hearing caused by changes in the inner ear is called sensorineural deafness. Hearing loss that results from changes in the middle ear is called conductive hearing loss. The middle ear contains three tiny bones that help transfer sound from the eardrum to the inner ear. Some forms of nonsyndromic deafness involve changes in both the inner ear and the middle ear; this combination is called mixed hearing loss.

The severity of hearing loss varies and can change over time. It can affect one ear (unilateral) or both ears (bilateral). Degrees of hearing loss range from mild (difficulty understanding soft speech) to profound (inability to hear even very loud noises). The loss may be stable, or it may progress as a person gets older. Particular types of nonsyndromic deafness often show distinctive patterns of hearing loss. For example, the loss may be more pronounced at high, middle, or low tones.

Nonsyndromic deafness can occur at any age. Hearing loss that is present before a child learns to speak is classified as prelingual or congenital. Hearing loss that occurs after the development of speech is classified as postlingual.

Epidemiology

About 1 in 1,000 children in the United States is born with profound deafness. By age 9, about 3 in 1,000 children have hearing loss that affects the activities of daily living. More than half of these cases are caused by genetic factors. Most cases of genetic deafness (70% to 80%) are nonsyndromic; the remaining cases are caused by specific genetic syndromes. In adults, the chance of developing hearing loss increases with age; hearing loss affects half of all people older than 80 years.

Genes related to nonsyndromic deafness

Mutations in the ACTG1, CDH23, CLDN14, COCH, COL11A2, DFNA5, ESPN, EYA4, GJB2, GJB6, KCNQ4, MYO15A, MYO6, MYO7A, OTOF, PCDH15, POU3F4, SLC26A4, STRC, TECTA, TMC1, TMIE, TMPRSS3, USH1C, and WFS1 genes cause nonsyndromic deafness, with weaker evidence currently implicating genes CCDC50, DIAPH1, DSPP, ESRRB, GJB3, GRHL2, GRXCR1, HGF, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MIR96, MYH14, MYH9, MYO1A, MYO3A, OTOA, PJVK, POU4F3, PRPS1, PTPRQ, RDX, SERPINB6, SIX1, SLC17A8, TPRN, TRIOBP, and WHRN.

The causes of nonsyndromic deafness can be complex. Researchers have identified more than 30 genes that, when mutated, may cause nonsyndromic deafness; however, some of these genes have not been fully characterized. Many genes related to deafness are involved in the development and function of the inner ear. Gene mutations interfere with critical steps in processing sound, resulting in hearing loss. Different mutations in the same gene can cause different types of hearing loss, and some genes are associated with both syndromic and nonsyndromic deafness. In many families, the gene(s) involved have yet to be identified.

Deafness can also result from environmental factors or a combination of genetic and environmental factors, including certain medications, peri-natal infections (infections occurring before or after birth), and exposure to loud noise over an extended period.

Types include:

OMIM	Gene	Type
124900	DIAPH1	DFNA1
600101	KCNQ4	DFNA2A
612644	GJB3	DFNA2B
601544	GJB2	DFNA3A
612643	GJB6	DFNA3B
600652	MYH14	DFNA4
600994	DFNA5	DFNA5
601543	TECTA	DFNA8/12
601369	COCH	DFNA9
601316	EYA4	DFNA10
601317	MYO7A	DFNA11, neurosensory
601868	COL11A2	DFNA13
602459	POU4F3	DFNA15
603622	MYH9	DFNA17
604717	ACTG1	DFNA20/26
606346	MYO6	DFNA22
605192	SIX1	DFNA23
605583	SLC17A8	DFNA25
608641	GRHL2	DFNA28
606705	TMC1	DFNA36
605594	DSPP	DFNA36, with dentinogenesis
607453	CCDC50	DFNA44
607841	MYO1A	DFNA48
613074	MIR96	DFNA50
220290	GJB2	DFNB1A
612645	GJB6	DFNB1B
600060	MYO7A	DFNB2, neurosensory (see also Usher syndrome)
600316	MYO15A	DFNB3
600971	TMIE	DFNB6
600974	TMC1	DFNB7
601072	TMPRSS3	DFNB8, childhood onset
601071	OTOF	DFNB9
605316	TMPRSS3	DFNB10, congenital
601386	CDH23	DFNB12
603720	STRC	DFNB16
602092	USH1C	DFNB18
603629	TECTA	DFNB21
607039	OTOA	DFNB22
609533	PCDH15	DFNB23
611022	RDX	DFNB24
613285	GRXCR1	DFNB25
609823	TRIOBP	DFNB28
607101	MYO3A	DFNB30
607084	WHRN	DFNB31
608565	ESRRB	DFNB35
609006	ESPN	DFNB36
607821	MYO6	DFNB37
608265	HGF	DFNB39
610153	MARVELD2	DFNB49
609706	COL11A2	DFNB53
610220	PJVK	DFNB59
611451	LRTOMT	DFNB63
610265	LHFPL5	DFNB67
613079	LOXHD1	DFNB77
613307	TPRN	DFNB79
613391	PTPRQ	DFNB84
613453	SERPINB6	DFNB91
304500	PRPS1	DFNX1
304400	POU3F4	DFNX2

Genetics

Nonsyndromic deafness can have different patterns of inheritance. Between 75% and 80% of cases are inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Usually, each parent of an individual with autosomal recessive deafness is a carrier of one copy of the altered gene. These carriers do not have hearing loss.

Another 20% to 25% of nonsyndromic deafness cases are autosomal dominant, which means one copy of the altered gene in each cell is sufficient to result in hearing loss. People with autosomal dominant deafness most often inherit an altered copy of the gene from a parent who has hearing loss.

Between 1% and 2% of cases show an X-linked pattern of inheritance, which means the mutated gene responsible for the condition is located on the X chromosome. Males with X-linked nonsyndromic deafness tend to develop more severe hearing loss earlier in life than females who inherit a copy of the same gene mutation. Fathers will not pass X-linked traits to their sons since they do not pass on the X chromosome to their male offspring.

Mitochondrial nonsyndromic deafness, which results from changes to the DNA in mitochondria, occurs in fewer than 1% of cases in the United States. The altered mitochondrial DNA is passed from a mother to her sons and daughters. This type of deafness is not inherited from fathers.

Late onset progressive deafness is the most common neurological disability of the elderly. Although hearing loss of greater than 25 decibels is present in only 1% of young adults between the ages of 18–24 years of age, this increases to 10% in persons between 55–64 years of age and approximately 50% in octogenarians.

The relative contribution of heredity to age-related hearing impairment is not known, however the majority of inherited late-onset deafness is autosomal dominant and non-syndromic (Van Camp et al., 1997). Over forty genes associated with autosomal dominant non-syndromic hearing loss have been localized and of these fifteen have been cloned.

External links

Pandya, Arti (21 April 2011). Nonsyndromic Hearing Loss and Deafness, Mitochondrial. PMID 20301595. NBK1422. In Pagon RA, Bird TD, Dolan CR et al., eds. (1993–). GeneReviews™ [Internet]. Seattle WA: University of Washington, Seattle. Check date values in: |date= (help)
Smith, Richard JH; Sheffield, Abraham M; Camp, Guy Van (19 April 2012). Nonsyndromic Hearing Loss and Deafness, DFNA3. PMID 20301708. NBK1536. In GeneReviews
Smith, Richard JH; Camp, Guy Van (2 January 2014). Nonsyndromic Hearing Loss and Deafness, DFNB1. PMID 20301449. NBK1272. In GeneReviews
Huijun Yuan; Xue Z Liu (4 August 2011). DFNX1 Nonsyndromic Hearing Loss and Deafness. PMID 21834172. NBK57098. In GeneReviews
Smith, Richard JH; Gurrola, II, Jose G; Kelley, Philip M (14 June 2011). OTOF-Related Deafness. PMID 20301429. NBK1251. In GeneReviews

UpToDate Contents

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1. 突発性難聴 sudden sensorineural hearing loss
2. 小児における聴覚障害の評価 evaluation of hearing impairment in children
3. 非メンデル遺伝のパターン non mendelian inheritance patterns
4. 成人における難聴の病因 etiology of hearing loss in adults
5. 成人における難聴の評価 evaluation of hearing loss in adults

English Journal

Deletion of PDZD7 disrupts the Usher syndrome type 2 protein complex in cochlear hair cells and causes hearing loss in mice.

Zou J1, Zheng T, Ren C, Askew C, Liu XP, Pan B, Holt JR, Wang Y, Yang J.Author information 1Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah, 65 Mario Capecchi Drive, Salt Lake City, UT 84132, USA.AbstractUsher syndrome type 2 (USH2) is the predominant form of USH, a leading genetic cause of combined deafness and blindness. PDZD7, a paralog of two USH causative genes, USH1C and USH2D (WHRN), was recently reported to be implicated in USH2 and non-syndromic deafness. It encodes a protein with multiple PDZ domains. To understand the biological function of PDZD7 and the pathogenic mechanism caused by PDZD7 mutations, we generated and thoroughly characterized a Pdzd7 knockout mouse model. The Pdzd7 knockout mice exhibit congenital profound deafness, as assessed by auditory brainstem response, distortion product otoacoustic emission and cochlear microphonics tests, and normal vestibular function, as assessed by their behaviors. Lack of PDZD7 leads to the disorganization of stereocilia bundles and a reduction in mechanotransduction currents and sensitivity in cochlear outer hair cells. At the molecular level, PDZD7 determines the localization of the USH2 protein complex, composed of USH2A, GPR98 and WHRN, to ankle links in developing cochlear hair cells, likely through its direct interactions with these three proteins. The localization of PDZD7 to the ankle links of cochlear hair bundles also relies on USH2 proteins. In photoreceptors of Pdzd7 knockout mice, the three USH2 proteins largely remain unchanged at the periciliary membrane complex. The electroretinogram responses of both rod and cone photoreceptors are normal in knockout mice at 1 month of age. Therefore, although the organization of the USH2 complex appears different in photoreceptors, it is clear that PDZD7 plays an essential role in organizing the USH2 complex at ankle links in developing cochlear hair cells. GenBank accession numbers: KF041446, KF041447, KF041448, KF041449, KF041450, KF041451.
Human molecular genetics.Hum Mol Genet.2014 May 1;23(9):2374-90. doi: 10.1093/hmg/ddt629. Epub 2013 Dec 11.
Usher syndrome type 2 (USH2) is the predominant form of USH, a leading genetic cause of combined deafness and blindness. PDZD7, a paralog of two USH causative genes, USH1C and USH2D (WHRN), was recently reported to be implicated in USH2 and non-syndromic deafness. It encodes a protein with multiple
PMID 24334608

Connexin gene mutations among Ugandan patients with non-syndromic sensorineural hearing loss.

Javidnia H1, Carson N, Awubwa M, Byaruhanga R, Mack D, Vaccani JP.Author information 1Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, ON, K1H 8L1.AbstractBackground Congenital deafness occurs in approximately 1 in 1000 live births and 50 percent of these cases are hereditary. Connexin mutations have been identified as the most common cause of hereditary hearing loss in many populations. The prevalence of this mutation in African patients has not been adequately studied. The objective of this study was to determine the prevalence of connexin 26 and 30 mutations in a population of hearing impaired patients from Uganda. Study Design This is an observational study. Methods Coding regions of both GJB2 and GJB6, noncoding exon 1 of GJB2 and 30 nucleotides of intronic sequence bordering the exons were analyzed in 126 subjects from Uganda with confirmed bilateral, severe to profound sensorineural hearing loss. All variants were analyzed for possible clinical significance using a combination of database searches and in silico tools. Results Complete sequence data was obtained on 115/126 individuals; 11 had only partial or no results. Only one reported pathogenic variant was found in GJB2 (c.208C>G; p.Pro70Ala) and none in GJB6. Three reported variants, and 2 novel variants within intron 1 of GJB2 and two variants within exon 3 of GJB6 were also found. Conclusion None of the most common types of deletions in the GJB2 gene (c.35delG, c.167delT or c.235delC) were found in this large cohort of deaf children from Uganda. This prompts a search for genetic causes of deafness amongst this and other previously studied African populations.
The Laryngoscope.Laryngoscope.2014 Apr 5. doi: 10.1002/lary.24697. [Epub ahead of print]
Background Congenital deafness occurs in approximately 1 in 1000 live births and 50 percent of these cases are hereditary. Connexin mutations have been identified as the most common cause of hereditary hearing loss in many populations. The prevalence of this mutation in African patients has not been
PMID 24706568

Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran.

Bonyadi MJ1, Fotouhi N2, Esmaeili M3.Author information 1Center of Excellence for Biodiversity, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran; Liver and Gastrointestinal Disease Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. Electronic address: Jabbarpour@tabrizu.ac.ir.2Liver and Gastrointestinal Disease Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. Electronic address: nku.fotouhi86@gmail.com.3Institute of Human Genetics, Jena University Hospital, Jena, Germany. Electronic address: mesmaiili@yahoo.com.AbstractOBJECTIVE: Mutations in GJB2 and GJB6 which comprise DFNB1 locus cause up to half of all cases of the prelingual autosomal recessive non-syndromic hearing loss (ARNSHL) worldwide. This study has intended to assess the spectrum and frequency of GJB2/GJB6 mutations in northwest of Iran.
International journal of pediatric otorhinolaryngology.Int J Pediatr Otorhinolaryngol.2014 Apr;78(4):637-40. doi: 10.1016/j.ijporl.2014.01.022. Epub 2014 Jan 27.
OBJECTIVE: Mutations in GJB2 and GJB6 which comprise DFNB1 locus cause up to half of all cases of the prelingual autosomal recessive non-syndromic hearing loss (ARNSHL) worldwide. This study has intended to assess the spectrum and frequency of GJB2/GJB6 mutations in northwest of Iran.METHODS: 508 Pa
PMID 24529908

Japanese Journal

Usher症候群タイプ1の原因遺伝子と前庭機能評価についての検討

吉村豪兼,岩崎聡,熊川孝三,小林有美子,佐藤宏昭,福島邦博,福岡久邦,塚田景大,工穣,宇佐美真一
Equilibrium Research 72(6), 467-471, 2013
… The Usher syndrome (USH) is a group of recessively inherited disorders characterized by deafness and vision loss. … It appears to have profound non-syndromic hearing loss and vestibular dysfunction in childhood and retinitis pigmentosa develops in later years. …
NAID 130003395168

Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China

Sun Yi,Chen Jing,Sun Hanjun [他],CHENG Jing,LI Jianzhong,LU Yu,LU Yanping,JIN Zhanguo,ZHU Yuhua,OUYANG Xiaomei,YAN Denise,DAI Pu,HAN Dongyi,YANG Weiyan,WANG Rongguang,LIU Xuezhong,YUAN Huijun
Journal of human genetics 56(1), 64-70, 2011-01-01
NAID 10030657470

Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?

Kokotas Haris,Grigoriadou Maria,Korres George S. [他],FEREKIDOU Elisabeth,GIANNOULIA-KARANTANA Aglaia,KANDILOROS Dimitrios,KORRES Stavros,PETERSEN Michael B
Journal of human genetics 55(5), 265-269, 2010-05-01
NAID 10030734744

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リンク元	「非症候性難聴」「nonsyndromic deafness」「nonsyndromic hearing loss」「non-syndromic hearing loss」
関連記事	「deafness」「n」「syndromic」「non」

「非症候性難聴」

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英: nonsyndromic deafness、non-syndromic deafness、nonsyndromic hearing loss、non-syndromic hearing loss

「nonsyndromic deafness」

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非症候性難聴

関: non-syndromic deafness、non-syndromic hearing loss、nonsyndromic hearing loss

「nonsyndromic hearing loss」

　　[★]

非症候性難聴

関: non-syndromic deafness、non-syndromic hearing loss、nonsyndromic deafness

「non-syndromic hearing loss」

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非症候性難聴

関: non-syndromic deafness、nonsyndromic deafness、nonsyndromic hearing loss

「deafness」

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n.

聴覚消失
難聴。(人の話を故意に)聞こうとしないこと。耳が聞こえないこと、ろう、聾
1. the quality of being unable to hear, either completely or partly. 2.an unwillingness to listen, or a lack of understanding about something(https://dictionary.cambridge.org/dictionary/english/deafness)