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Deafness, X-linked(DFNX)

MedGen UID:
432740
Concept ID:
CN043651
Disease or Syndrome
Synonyms: DFNX; Nonsyndromic Hearing Loss and Deafness, X-Linked
 
OMIM® Phenotypic series: PS304500
Orphanet: ORPHA90625

Definition

Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body.\n\nNonsyndromic hearing loss can be classified in several different ways. One common way is by the condition's pattern of inheritance: autosomal dominant (DFNA), autosomal recessive (DFNB), X-linked (DFNX), or mitochondrial (which does not have a special designation). Each of these types of hearing loss includes multiple subtypes. DFNA, DFNB, and DFNX subtypes are numbered in the order in which they were first described. For example, DFNA1 was the first type of autosomal dominant nonsyndromic hearing loss to be identified.\n\nDepending on the type, nonsyndromic hearing loss can become apparent at any time from infancy to old 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.\n\nThe characteristics of nonsyndromic hearing loss vary among the different types. Hearing loss 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 term "deafness" is often used to describe severe-to-profound hearing loss. Hearing loss can be stable, or it may be progressive, becoming more severe as a person gets older. Particular types of nonsyndromic hearing loss show distinctive patterns of hearing loss. For example, the loss may be more pronounced at high, middle, or low tones.\n\nMost forms of nonsyndromic hearing loss are described as sensorineural, which means they are associated with a permanent loss of hearing caused by damage to structures in the inner ear. The inner ear processes sound and sends the information to the brain in the form of electrical nerve impulses. Less commonly, nonsyndromic hearing loss is described as conductive, meaning it results from changes in the middle ear. The middle ear contains three tiny bones that help transfer sound from the eardrum to the inner ear. Some forms of nonsyndromic hearing loss, particularly a type called DFNX2, involve changes in both the inner ear and the middle ear. This combination is called mixed hearing loss. [from MedlinePlus Genetics]

Term Hierarchy

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Professional guidelines

PubMed

Alford RL, Arnos KS, Fox M, Lin JW, Palmer CG, Pandya A, Rehm HL, Robin NH, Scott DA, Yoshinaga-Itano C; ACMG Working Group on Update of Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss.; Professional Practice and Guidelines Committee.
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Recent clinical studies

Etiology

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Diagnosis

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Therapy

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Prognosis

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Otolaryngol Head Neck Surg 2021 Jan;164(1):19-26. Epub 2020 Jun 30 doi: 10.1177/0194599820932138. PMID: 32600118
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Diagn Interv Radiol 2008 Sep;14(3):117-9. PMID: 18814129

Clinical prediction guides

Smith JD, El-Kashlan N, Darr OAF, Thorne MC
Otolaryngol Head Neck Surg 2021 Jan;164(1):19-26. Epub 2020 Jun 30 doi: 10.1177/0194599820932138. PMID: 32600118
Fiorentino A, Fujinami K, Arno G, Robson AG, Pontikos N, Arasanz Armengol M, Plagnol V, Hayashi T, Iwata T, Parker M, Fowler T, Rendon A, Gardner JC, Henderson RH, Cheetham ME, Webster AR, Michaelides M, Hardcastle AJ; 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium.
Hum Mutat 2018 Jan;39(1):80-91. Epub 2017 Oct 17 doi: 10.1002/humu.23349. PMID: 28967191
Niu Z, Feng Y, Mei L, Sun J, Wang X, Wang J, Hu Z, Dong Y, Chen H, He C, Liu Y, Cai X, Liu X, Jiang L
PLoS One 2017;12(5):e0178384. Epub 2017 May 25 doi: 10.1371/journal.pone.0178384. PMID: 28542515Free PMC Article
Zong L, Guan J, Ealy M, Zhang Q, Wang D, Wang H, Zhao Y, Shen Z, Campbell CA, Wang F, Yang J, Sun W, Lan L, Ding D, Xie L, Qi Y, Lou X, Huang X, Shi Q, Chang S, Xiong W, Yin Z, Yu N, Zhao H, Wang J, Wang J, Salvi RJ, Petit C, Smith RJ, Wang Q
J Med Genet 2015 Aug;52(8):523-31. Epub 2015 May 18 doi: 10.1136/jmedgenet-2014-102961. PMID: 25986071Free PMC Article
Pauws E, Peskett E, Boissin C, Hoshino A, Mengrelis K, Carta E, Abruzzo MA, Lees M, Moore GE, Erickson RP, Stanier P
Clin Genet 2013 Apr;83(4):352-8. Epub 2012 Aug 7 doi: 10.1111/j.1399-0004.2012.01930.x. PMID: 22784330

Recent systematic reviews

Wong K, Bahethi RR, Weitzman RE, Schwam ZG, Wanna GB
Otol Neurotol 2021 Jun 1;42(5):638-645. doi: 10.1097/MAO.0000000000003021. PMID: 33492060
Smith JD, El-Kashlan N, Darr OAF, Thorne MC
Otolaryngol Head Neck Surg 2021 Jan;164(1):19-26. Epub 2020 Jun 30 doi: 10.1177/0194599820932138. PMID: 32600118

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