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Hearing loss, autosomal recessive 107(DFNB107)

MedGen UID:
1622558
•Concept ID:
C4539964
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 107
 
Gene (location): WBP2 (17q25.1)
 
Monarch Initiative: MONDO:0033199
OMIM®: 617639

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

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ
Invest Ophthalmol Vis Sci 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. PMID: 37466950Free 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

Recent clinical studies

Etiology

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ
Invest Ophthalmol Vis Sci 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. PMID: 37466950Free PMC Article
GJB2-related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations.
Koohiyan M, Koohian F, Azadegan-Dehkordi F
Ann Hum Genet 2020 Mar;84(2):107-113. Epub 2019 Sep 11 doi: 10.1111/ahg.12354. PMID: 31512227
A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct.
Liang Y, Peng Q, Wang K, Zhu P, Wu C, Rao C, Chang J, Li S, Lu X
Int J Pediatr Otorhinolaryngol 2018 Apr;107:97-100. Epub 2018 Jan 31 doi: 10.1016/j.ijporl.2018.01.037. PMID: 29501320
GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.
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
A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.
Pater JA, Benteau T, Griffin A, Penney C, Stanton SG, Predham S, Kielley B, Squires J, Zhou J, Li Q, Abdelfatah N, O'Rielly DD, Young TL
Hum Genet 2017 Jan;136(1):107-118. Epub 2016 Nov 12 doi: 10.1007/s00439-016-1746-7. PMID: 27838790Free PMC Article

Diagnosis

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ
Invest Ophthalmol Vis Sci 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. PMID: 37466950Free PMC Article
Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families.
Asaad M, Mahfood M, Al Mutery A, Tlili A
Hum Genomics 2023 May 15;17(1):42. doi: 10.1186/s40246-023-00489-1. PMID: 37189200Free PMC Article
WFS1 Gene-associated Diabetes Phenotypes and Identification of a Founder Mutation in Southern India.
Chapla A, Johnson J, Korula S, Mohan N, Ahmed A, Varghese D, Rangasamy P, Ravichandran L, Jebasingh F, Kumar Agrawal K, Somasundaram N, Hesarghatta Shyamasunder A, Mathai S, Simon A, Jha S, Chowdry S, Venkatesan R, Raghupathy P, Thomas N
J Clin Endocrinol Metab 2022 Apr 19;107(5):1328-1336. doi: 10.1210/clinem/dgac002. PMID: 35018440
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
GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.
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

Therapy

Previously unreported abnormalities in Wolfram Syndrome Type 2.
Akturk HK, Yasa S
Pediatr Endocrinol Diabetes Metab 2017;23(2):107-110. doi: 10.18544/PEDM-23.02.0081. PMID: 29073294

Prognosis

Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families.
Asaad M, Mahfood M, Al Mutery A, Tlili A
Hum Genomics 2023 May 15;17(1):42. doi: 10.1186/s40246-023-00489-1. PMID: 37189200Free PMC Article
A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct.
Liang Y, Peng Q, Wang K, Zhu P, Wu C, Rao C, Chang J, Li S, Lu X
Int J Pediatr Otorhinolaryngol 2018 Apr;107:97-100. Epub 2018 Jan 31 doi: 10.1016/j.ijporl.2018.01.037. PMID: 29501320

Clinical prediction guides

Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families.
Asaad M, Mahfood M, Al Mutery A, Tlili A
Hum Genomics 2023 May 15;17(1):42. doi: 10.1186/s40246-023-00489-1. PMID: 37189200Free PMC Article
Cochlear implantation in children with inner ear malformation: A multicenter study on auditory performance and speech production outcomes.
Daneshi A, Farhadi M, Ajalloueyan M, Rajati M, Hashemi SB, Ghasemi MM, Emamdjomeh H, Asghari A, Mohseni M, Mohebbi S, Hosseinzadeh F, Mirsalehi M
Int J Pediatr Otorhinolaryngol 2020 May;132:109901. Epub 2020 Jan 22 doi: 10.1016/j.ijporl.2020.109901. PMID: 32006863
A novel mutation in the SLC26A4 gene in a Chinese family with non-syndromic hearing loss and enlarged vestibular aqueduct.
Liang Y, Peng Q, Wang K, Zhu P, Wu C, Rao C, Chang J, Li S, Lu X
Int J Pediatr Otorhinolaryngol 2018 Apr;107:97-100. Epub 2018 Jan 31 doi: 10.1016/j.ijporl.2018.01.037. PMID: 29501320
GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.
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
KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function.
Reichold M, Zdebik AA, Lieberer E, Rapedius M, Schmidt K, Bandulik S, Sterner C, Tegtmeier I, Penton D, Baukrowitz T, Hulton SA, Witzgall R, Ben-Zeev B, Howie AJ, Kleta R, Bockenhauer D, Warth R
Proc Natl Acad Sci U S A 2010 Aug 10;107(32):14490-5. Epub 2010 Jul 22 doi: 10.1073/pnas.1003072107. PMID: 20651251Free PMC Article

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