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Hearing loss, autosomal recessive 114(DFNB114)

MedGen UID:
1684024
•Concept ID:
C5193107
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 114
 
Gene (location): GRAP (17p11.2)
 
Monarch Initiative: MONDO:0032761
OMIM®: 618456

Definition

DFNB114 is characterized by congenital profound sensorineural hearing loss (Li et al., 2019). [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.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Early Elevation and Normalization of Electrode Impedance in Patients With Enlarged Vestibular Aqueduct Undergoing Cochlear Implantation.
Li LP, Wei JJ, Chen JK, Wu DC, Coelho DH
Otol Neurotol 2022 Jun 1;43(5):e535-e539. Epub 2022 Feb 24 doi: 10.1097/MAO.0000000000003506. PMID: 35213479
SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct.
Chao JR, Chattaraj P, Munjal T, Honda K, King KA, Zalewski CK, Chien WW, Brewer CC, Griffith AJ
BMC Med Genet 2019 Jul 2;20(1):118. doi: 10.1186/s12881-019-0853-4. PMID: 31266487Free PMC Article
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
Piscosquito G, Saveri P, Magri S, Ciano C, Gandioli C, Morbin M, Bella DD, Moroni I, Taroni F, Pareyson D
J Peripher Nerv Syst 2016 Sep;21(3):142-9. doi: 10.1111/jns.12175. PMID: 27231023Free PMC Article
Meier-Gorlin syndrome.
de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Orphanet J Rare Dis 2015 Sep 17;10:114. doi: 10.1186/s13023-015-0322-x. PMID: 26381604Free PMC Article
Audiovestibular findings in patients with mitochondrial A1555G mutation.
Noguchi Y, Yashima T, Ito T, Sumi T, Tsuzuku T, Kitamura K
Laryngoscope 2004 Feb;114(2):344-8. doi: 10.1097/00005537-200402000-00031. PMID: 14755216

Diagnosis

MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.
Zhang L, Yang JY, Wang QQ, Gao X, Wang GJ, Han MY, Kang DY, Han DY, Huang SS, Yuan YY
BMC Med Genomics 2024 Jan 23;17(1):32. doi: 10.1186/s12920-023-01786-3. PMID: 38254107Free PMC Article
Meier-Gorlin syndrome.
de Munnik SA, Hoefsloot EH, Roukema J, Schoots J, Knoers NV, Brunner HG, Jackson AP, Bongers EM
Orphanet J Rare Dis 2015 Sep 17;10:114. doi: 10.1186/s13023-015-0322-x. PMID: 26381604Free PMC Article

Prognosis

MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.
Zhang L, Yang JY, Wang QQ, Gao X, Wang GJ, Han MY, Kang DY, Han DY, Huang SS, Yuan YY
BMC Med Genomics 2024 Jan 23;17(1):32. doi: 10.1186/s12920-023-01786-3. PMID: 38254107Free PMC Article
Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
Piscosquito G, Saveri P, Magri S, Ciano C, Gandioli C, Morbin M, Bella DD, Moroni I, Taroni F, Pareyson D
J Peripher Nerv Syst 2016 Sep;21(3):142-9. doi: 10.1111/jns.12175. PMID: 27231023Free PMC Article
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller C, Smith RJ, Sumegi J, Kimberling WJ
Am J Hum Genet 2000 Apr;66(4):1199-210. Epub 2000 Mar 22 doi: 10.1086/302855. PMID: 10729113Free PMC Article

Clinical prediction guides

Screening for SH3TC2 gene mutations in a series of demyelinating recessive Charcot-Marie-Tooth disease (CMT4).
Piscosquito G, Saveri P, Magri S, Ciano C, Gandioli C, Morbin M, Bella DD, Moroni I, Taroni F, Pareyson D
J Peripher Nerv Syst 2016 Sep;21(3):142-9. doi: 10.1111/jns.12175. PMID: 27231023Free PMC Article
Evidence of a founder effect for the 235delC mutation of GJB2 (connexin 26) in east Asians.
Yan D, Park HJ, Ouyang XM, Pandya A, Doi K, Erdenetungalag R, Du LL, Matsushiro N, Nance WE, Griffith AJ, Liu XZ
Hum Genet 2003 Dec;114(1):44-50. Epub 2003 Sep 18 doi: 10.1007/s00439-003-1018-1. PMID: 14505035
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
Weston MD, Eudy JD, Fujita S, Yao S, Usami S, Cremers C, Greenberg J, Ramesar R, Martini A, Moller C, Smith RJ, Sumegi J, Kimberling WJ
Am J Hum Genet 2000 Apr;66(4):1199-210. Epub 2000 Mar 22 doi: 10.1086/302855. PMID: 10729113Free PMC Article
Erratum: analysis of DNA elements that modulate myosin VIIa expression in humans.
Orten DJ, Weston MD, Kelley PM, Cremers CW, Wagenaar M, Jacobson SG, Kimberling WJ
Hum Mutat 2000 Jan;15(1):114-5. doi: 10.1002/(SICI)1098-1004(200001)15:1<114::AID-HUMU21>3.0.CO;2-4. PMID: 10612833

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