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Deafness, X-linked 5(DFNX5)

MedGen UID:
335096
Concept ID:
C1845095
Disease or Syndrome
Synonyms: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY; DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY; DFNX5
 
Gene (location): AIFM1 (Xq26.1)
 
OMIM®: 300614

Definition

X-linked deafness-5 is a neurologic disorder characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment affecting the peripheral nervous system (summary by Zong et al., 2015). [from OMIM]

Clinical features

From HPO
Tinnitus
MedGen UID:
52760
Concept ID:
C0040264
Disease or Syndrome
Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
Vertigo
MedGen UID:
53006
Concept ID:
C0042571
Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Abnormal speech discrimination
MedGen UID:
322986
Concept ID:
C1836752
Finding
A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss.
Abnormal middle ear reflexes
MedGen UID:
410175
Concept ID:
C1970887
Finding
Cochlear nerve hypoplasia
MedGen UID:
902316
Concept ID:
C4230952
Congenital Abnormality
A developmental defect characterized by underdevelopment of the cochlear nerve.
Unsteady gait
MedGen UID:
68544
Concept ID:
C0231686
Finding
A shaky or wobbly manner of walking.
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Sensory axonal neuropathy
MedGen UID:
334116
Concept ID:
C1842587
Finding
An axonal neuropathy of peripheral sensory nerves.
Distal sensory impairment
MedGen UID:
335722
Concept ID:
C1847584
Finding
An abnormal reduction in sensation in the distal portions of the extremities.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Muscular atrophy
MedGen UID:
892680
Concept ID:
C0541794
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.

Professional guidelines

PubMed

Fouquet C, Le Rouzic MA, Leblanc T, Fouyssac F, Leverger G, Hessissen L, Marlin S, Bourrat E, Fahd M, Raffoux E, Vannier JP, Jäkel N, Knoefler R, Triolo V, Pasquet M, Bayart S, Thuret I, Lutz P, Vermylen C, Touati M, Rose C, Matthes T, Isidor B, Kannengiesser C, Ducassou S
Br J Haematol 2019 Nov;187(4):530-542. Epub 2019 Jul 23 doi: 10.1111/bjh.16100. PMID: 31338833
Zhang X, Zhang Y, Zhang Y, Gu H, Chen Z, Ren L, Lu X, Chen L, Wang F, Liu Y, Ding J
Orphanet J Rare Dis 2018 Dec 22;13(1):229. doi: 10.1186/s13023-018-0974-4. PMID: 30577881Free PMC Article
de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J
Am J Hum Genet 2010 Apr 9;86(4):506-18. doi: 10.1016/j.ajhg.2010.02.024. PMID: 20380929Free PMC Article

Recent clinical studies

Etiology

Chen Y, Qiu J, Wu Y, Jia H, Jiang Y, Jiang M, Wang Z, Sheng HB, Hu L, Zhang Z, Wang Z, Li Y, Huang Z, Wu H
Orphanet J Rare Dis 2022 Feb 21;17(1):65. doi: 10.1186/s13023-022-02235-7. PMID: 35189936Free PMC Article
Smeds H, Wales J, Karltorp E, Anderlid BM, Henricson C, Asp F, Anmyr L, Lagerstedt-Robinson K, Löfkvist U
Ear Hear 2022 Jan/Feb;43(1):53-69. doi: 10.1097/AUD.0000000000001073. PMID: 34133399Free PMC Article
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
Bush RA, Wei LL, Sieving PA
Cold Spring Harb Perspect Med 2015 Jun 22;5(8):a017368. doi: 10.1101/cshperspect.a017368. PMID: 26101206Free PMC Article
Lemmink HH, Schröder CH, Monnens LA, Smeets HJ
Hum Mutat 1997;9(6):477-99. doi: 10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#. PMID: 9195222

Diagnosis

Chen Y, Qiu J, Wu Y, Jia H, Jiang Y, Jiang M, Wang Z, Sheng HB, Hu L, Zhang Z, Wang Z, Li Y, Huang Z, Wu H
Orphanet J Rare Dis 2022 Feb 21;17(1):65. doi: 10.1186/s13023-022-02235-7. PMID: 35189936Free PMC Article
Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
Chertkof J, Hufnagel RB, Blain D, Gropman AL, Brooks BP
Ophthalmic Genet 2020 Oct;41(5):497-500. Epub 2020 Aug 13 doi: 10.1080/13816810.2020.1799416. PMID: 32787478Free PMC Article
Rot I, Baguma-Nibasheka M, Costain WJ, Hong P, Tafra R, Mardesic-Brakus S, Mrduljas-Djujic N, Saraga-Babic M, Kablar B
Histol Histopathol 2017 Oct;32(10):987-1000. Epub 2017 Mar 8 doi: 10.14670/HH-11-886. PMID: 28271491
Colville DJ, Savige J
Ophthalmic Genet 1997 Dec;18(4):161-73. doi: 10.3109/13816819709041431. PMID: 9457747

Therapy

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
Chertkof J, Hufnagel RB, Blain D, Gropman AL, Brooks BP
Ophthalmic Genet 2020 Oct;41(5):497-500. Epub 2020 Aug 13 doi: 10.1080/13816810.2020.1799416. PMID: 32787478Free PMC Article
Liu XZ, Xie D, Yuan HJ, de Brouwer AP, Christodoulou J, Yan D
Int J Audiol 2013 Jan;52(1):23-8. Epub 2012 Nov 28 doi: 10.3109/14992027.2012.736032. PMID: 23190330Free PMC Article
Plenge RM, Tranebjaerg L, Jensen PK, Schwartz C, Willard HF
Am J Hum Genet 1999 Mar;64(3):759-67. doi: 10.1086/302286. PMID: 10053010Free PMC Article
Orstavik KH, Orstavik RE, Eiklid K, Tranebjaerg L
Am J Med Genet 1996 Jul 12;64(1):31-4. doi: 10.1002/(SICI)1096-8628(19960712)64:1<31::AID-AJMG4>3.0.CO;2-U. PMID: 8826445

Prognosis

Colombo L, Maltese PE, Castori M, El Shamieh S, Zeitz C, Audo I, Zulian A, Marinelli C, Benedetti S, Costantini A, Bressan S, Percio M, Ferri P, Abeshi A, Bertelli M, Rossetti L
Invest Ophthalmol Vis Sci 2021 Feb 1;62(2):13. doi: 10.1167/iovs.62.2.13. PMID: 33576794Free PMC Article
Chertkof J, Hufnagel RB, Blain D, Gropman AL, Brooks BP
Ophthalmic Genet 2020 Oct;41(5):497-500. Epub 2020 Aug 13 doi: 10.1080/13816810.2020.1799416. PMID: 32787478Free PMC Article
Bush RA, Wei LL, Sieving PA
Cold Spring Harb Perspect Med 2015 Jun 22;5(8):a017368. doi: 10.1101/cshperspect.a017368. PMID: 26101206Free PMC Article
Chang L, Blain D, Bertuzzi S, Brooks BP
Curr Opin Ophthalmol 2006 Oct;17(5):447-70. doi: 10.1097/01.icu.0000243020.82380.f6. PMID: 16932062
Vervoort R, Wright AF
Hum Mutat 2002 May;19(5):486-500. doi: 10.1002/humu.10057. PMID: 11968081

Clinical prediction guides

Amor DJ, Stephenson SEM, Mustapha M, Mensah MA, Ockeloen CW, Lee WS, Tankard RM, Phelan DG, Shinawi M, de Brouwer APM, Pfundt R, Dowling C, Toler TL, Sutton VR, Agolini E, Rinelli M, Capolino R, Martinelli D, Zampino G, Dumić M, Reardon W, Shaw-Smith C, Leventer RJ, Delatycki MB, Kleefstra T, Mundlos S, Mortier G, Bahlo M, Allen NJ, Lockhart PJ
Am J Hum Genet 2019 May 2;104(5):914-924. Epub 2019 Apr 11 doi: 10.1016/j.ajhg.2019.02.026. PMID: 30982611Free PMC Article
Su Y, Gao X, Huang SS, Mao JN, Huang BQ, Zhao JD, Kang DY, Zhang X, Dai P
BMC Med Genet 2018 Sep 4;19(1):157. doi: 10.1186/s12881-018-0630-9. PMID: 30176854Free PMC Article
Chang L, Blain D, Bertuzzi S, Brooks BP
Curr Opin Ophthalmol 2006 Oct;17(5):447-70. doi: 10.1097/01.icu.0000243020.82380.f6. PMID: 16932062
Vervoort R, Wright AF
Hum Mutat 2002 May;19(5):486-500. doi: 10.1002/humu.10057. PMID: 11968081
Stojkovic T, Latour P, Vandenberghe A, Hurtevent JF, Vermersch P
Neurology 1999 Mar 23;52(5):1010-4. doi: 10.1212/wnl.52.5.1010. PMID: 10102421

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

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