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Hearing loss, autosomal recessive 121(DFNB121)

MedGen UID:
1844128
Concept ID:
C5882709
Disease or Syndrome
Synonym: Deafness, autosomal recessive 121
 
Gene (location): GPR156 (3q13.33)
 
Monarch Initiative: MONDO:0957825
OMIM®: 620551

Definition

Autosomal recessive deafness-121 (DFNB121) is characterized by congenital or prelingual moderate sensorineural hearing loss (Ramzan et al., 2023). [from OMIM]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Vestibular hyporeflexia
MedGen UID:
336378
Concept ID:
C1848606
Finding
A general descriptive term that describes impaired functioning of the vestibular apparatus that leads to manifestations such as dizziness or postural imbalance
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.

Recent clinical studies

Etiology

Heon E, Melia M, Bocchino LE, Samarakoon L, Duncan JL, Ayala AR, Audo I, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Hoyng CB, Jain N, Jayasundera KT, Pennesi ME, Weng CY; Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol 2024 Apr;260:200-211. Epub 2023 Dec 21 doi: 10.1016/j.ajo.2023.12.009. PMID: 38135239
Bitarafan F, Seyedena SY, Mahmoudi M, Garshasbi M
J Clin Lab Anal 2020 Dec;34(12):e23544. Epub 2020 Aug 30 doi: 10.1002/jcla.23544. PMID: 32864763Free PMC Article
Chen S, Liang Z, Chen B, Yao F, Huang G, Zhu J, Li Y, Gao S, Zhao Q
Int J Pediatr Otorhinolaryngol 2019 Jun;121:99-108. Epub 2019 Mar 8 doi: 10.1016/j.ijporl.2019.01.012. PMID: 30878560
Koohiyan M, Hashemzadeh-Chaleshtori M, Salehi M, Abtahi H, Reiisi S, Pourreza MR, Noori-Daloii MR, Tabatabaiefar MA
Int J Pediatr Otorhinolaryngol 2018 Apr;107:121-126. Epub 2018 Jan 31 doi: 10.1016/j.ijporl.2018.01.012. PMID: 29501291

Diagnosis

Heon E, Melia M, Bocchino LE, Samarakoon L, Duncan JL, Ayala AR, Audo I, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Hoyng CB, Jain N, Jayasundera KT, Pennesi ME, Weng CY; Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol 2024 Apr;260:200-211. Epub 2023 Dec 21 doi: 10.1016/j.ajo.2023.12.009. PMID: 38135239
Bitarafan F, Seyedena SY, Mahmoudi M, Garshasbi M
J Clin Lab Anal 2020 Dec;34(12):e23544. Epub 2020 Aug 30 doi: 10.1002/jcla.23544. PMID: 32864763Free PMC Article
Zhou B, Yu L, Wang Y, Shang W, Xie Y, Wang X, Han F
BMC Med Genet 2020 Jun 1;21(1):121. doi: 10.1186/s12881-020-01055-5. PMID: 32487028Free PMC Article
Koohiyan M, Hashemzadeh-Chaleshtori M, Salehi M, Abtahi H, Reiisi S, Pourreza MR, Noori-Daloii MR, Tabatabaiefar MA
Int J Pediatr Otorhinolaryngol 2018 Apr;107:121-126. Epub 2018 Jan 31 doi: 10.1016/j.ijporl.2018.01.012. PMID: 29501291
Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C
Ophthalmology 2014 Aug;121(8):1620-7. Epub 2014 Mar 31 doi: 10.1016/j.ophtha.2014.02.008. PMID: 24697911

Therapy

Çağdaş D, Sürücü N, Tan Ç, Kayaoğlu B, Özgül RK, Akkaya-Ulum YZ, Aydınoğlu AT, Aytaç S, Gümrük F, Balci-Hayta B, Balci-Peynircioğlu B, Özen S, Gürsel M, Tezcan İ
Mol Immunol 2020 May;121:28-37. Epub 2020 Mar 6 doi: 10.1016/j.molimm.2020.02.014. PMID: 32151906
Chen S, Liang Z, Chen B, Yao F, Huang G, Zhu J, Li Y, Gao S, Zhao Q
Int J Pediatr Otorhinolaryngol 2019 Jun;121:99-108. Epub 2019 Mar 8 doi: 10.1016/j.ijporl.2019.01.012. PMID: 30878560

Prognosis

Zhou B, Yu L, Wang Y, Shang W, Xie Y, Wang X, Han F
BMC Med Genet 2020 Jun 1;21(1):121. doi: 10.1186/s12881-020-01055-5. PMID: 32487028Free PMC Article
Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C
Ophthalmology 2014 Aug;121(8):1620-7. Epub 2014 Mar 31 doi: 10.1016/j.ophtha.2014.02.008. PMID: 24697911
Dreyer B, Brox V, Tranebjaerg L, Rosenberg T, Sadeghi AM, Möller C, Nilssen O
Hum Mutat 2008 Mar;29(3):451. doi: 10.1002/humu.9524. PMID: 18273898

Clinical prediction guides

Heon E, Melia M, Bocchino LE, Samarakoon L, Duncan JL, Ayala AR, Audo I, Bradley C, Cheetham JK, Dagnelie G, Durham TA, Hoyng CB, Jain N, Jayasundera KT, Pennesi ME, Weng CY; Foundation Fighting Blindness Consortium Investigator Group
Am J Ophthalmol 2024 Apr;260:200-211. Epub 2023 Dec 21 doi: 10.1016/j.ajo.2023.12.009. PMID: 38135239
Zhou B, Yu L, Wang Y, Shang W, Xie Y, Wang X, Han F
BMC Med Genet 2020 Jun 1;21(1):121. doi: 10.1186/s12881-020-01055-5. PMID: 32487028Free PMC Article
Koohiyan M, Hashemzadeh-Chaleshtori M, Salehi M, Abtahi H, Reiisi S, Pourreza MR, Noori-Daloii MR, Tabatabaiefar MA
Int J Pediatr Otorhinolaryngol 2018 Apr;107:121-126. Epub 2018 Jan 31 doi: 10.1016/j.ijporl.2018.01.012. PMID: 29501291
Dodson KM, Blanton SH, Welch KO, Norris VW, Nuzzo RL, Wegelin JA, Marin RS, Nance WE, Pandya A, Arnos KS
Am J Med Genet A 2011 May;155A(5):993-1000. Epub 2011 Apr 4 doi: 10.1002/ajmg.a.33828. PMID: 21465647Free PMC Article
Dreyer B, Brox V, Tranebjaerg L, Rosenberg T, Sadeghi AM, Möller C, Nilssen O
Hum Mutat 2008 Mar;29(3):451. doi: 10.1002/humu.9524. PMID: 18273898

Recent systematic reviews

Chen S, Liang Z, Chen B, Yao F, Huang G, Zhu J, Li Y, Gao S, Zhao Q
Int J Pediatr Otorhinolaryngol 2019 Jun;121:99-108. Epub 2019 Mar 8 doi: 10.1016/j.ijporl.2019.01.012. PMID: 30878560

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