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Hearing loss, autosomal recessive 106(DFNB106)

MedGen UID:
1627111
•Concept ID:
C4539954
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 106
 
Gene (location): EPS8L2 (11p15.5)
 
Monarch Initiative: MONDO:0033198
OMIM®: 617637

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
Roman TS, Crowley SB, Roche MI, Foreman AKM, O'Daniel JM, Seifert BA, Lee K, Brandt A, Gustafson C, DeCristo DM, Strande NT, Ramkissoon L, Milko LV, Owen P, Roy S, Xiong M, Paquin RS, Butterfield RM, Lewis MA, Souris KJ, Bailey DB Jr, Rini C, Booker JK, Powell BC, Weck KE, Powell CM, Berg JS
Am J Hum Genet 2020 Oct 1;107(4):596-611. Epub 2020 Aug 26 doi: 10.1016/j.ajhg.2020.08.001. PMID: 32853555Free PMC Article

Recent clinical studies

Etiology

DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients.
Skorczyk-Werner A, Tońska K, Maciejczuk A, Nowomiejska K, Korwin M, Ołdak M, Wawrocka A, Krawczyński MR
Int J Mol Sci 2023 Dec 15;24(24) doi: 10.3390/ijms242417496. PMID: 38139324Free PMC Article
Cochlear implantation in pediatric patients with Cockayne Syndrome.
Van Wyhe RD, Emery CV, Williamson RA
Int J Pediatr Otorhinolaryngol 2018 Mar;106:64-67. Epub 2017 Dec 30 doi: 10.1016/j.ijporl.2017.12.029. PMID: 29447894
Otologic Manifestations of Autosomal Recessive Congenital Ichthyosis in Children.
Martín-Santiago A, Rodríguez-Pascual M, Knöpfel N, Hernández-Martín Á
Actas Dermosifiliogr 2015 Nov;106(9):733-9. Epub 2015 Jul 21 doi: 10.1016/j.ad.2015.06.003. PMID: 26206273
The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals.
Huang S, Huang B, Wang G, Yuan Y, Dai P
PLoS One 2015;10(6):e0129662. Epub 2015 Jun 10 doi: 10.1371/journal.pone.0129662. PMID: 26061099Free PMC Article
High frequency hearing loss correlated with mutations in the GJB2 gene.
Wilcox SA, Saunders K, Osborn AH, Arnold A, Wunderlich J, Kelly T, Collins V, Wilcox LJ, McKinlay Gardner RJ, Kamarinos M, Cone-Wesson B, Williamson R, Dahl HH
Hum Genet 2000 Apr;106(4):399-405. doi: 10.1007/s004390000273. PMID: 10830906

Diagnosis

DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients.
Skorczyk-Werner A, Tońska K, Maciejczuk A, Nowomiejska K, Korwin M, Ołdak M, Wawrocka A, Krawczyński MR
Int J Mol Sci 2023 Dec 15;24(24) doi: 10.3390/ijms242417496. PMID: 38139324Free PMC Article
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
Roman TS, Crowley SB, Roche MI, Foreman AKM, O'Daniel JM, Seifert BA, Lee K, Brandt A, Gustafson C, DeCristo DM, Strande NT, Ramkissoon L, Milko LV, Owen P, Roy S, Xiong M, Paquin RS, Butterfield RM, Lewis MA, Souris KJ, Bailey DB Jr, Rini C, Booker JK, Powell BC, Weck KE, Powell CM, Berg JS
Am J Hum Genet 2020 Oct 1;107(4):596-611. Epub 2020 Aug 26 doi: 10.1016/j.ajhg.2020.08.001. PMID: 32853555Free PMC Article
High frequency hearing loss correlated with mutations in the GJB2 gene.
Wilcox SA, Saunders K, Osborn AH, Arnold A, Wunderlich J, Kelly T, Collins V, Wilcox LJ, McKinlay Gardner RJ, Kamarinos M, Cone-Wesson B, Williamson R, Dahl HH
Hum Genet 2000 Apr;106(4):399-405. doi: 10.1007/s004390000273. PMID: 10830906
Familial large vestibular aqueduct syndrome.
Griffith AJ, Arts A, Downs C, Innis JW, Shepard NT, Sheldon S, Gebarski SS
Laryngoscope 1996 Aug;106(8):960-5. doi: 10.1097/00005537-199608000-00009. PMID: 8699909

Clinical prediction guides

Cochlear implantation in pediatric patients with Cockayne Syndrome.
Van Wyhe RD, Emery CV, Williamson RA
Int J Pediatr Otorhinolaryngol 2018 Mar;106:64-67. Epub 2017 Dec 30 doi: 10.1016/j.ijporl.2017.12.029. PMID: 29447894
Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.
Ali G, Lee K, Andrade PB, Basit S, Santos-Cortez RL, Chen L, Jelani M, Ansar M, Ahmad W, Leal SM
Hum Hered 2011;71(2):106-12. Epub 2011 Jul 6 doi: 10.1159/000320154. PMID: 21734401Free PMC Article

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    • ClinVar
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      Clinical tests in GTR
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