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Hearing loss, autosomal recessive 108(DFNB108)

MedGen UID:
1627841
•Concept ID:
C4539997
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 108
 
Gene (location): ROR1 (1p31.3)
 
Monarch Initiative: MONDO:0033200
OMIM®: 617654

Clinical features

From HPO
Congenital sensorineural hearing impairment
MedGen UID:
356101
•Concept ID:
C1865866
•
Disease or Syndrome
A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.
See: Feature record | Search on this feature
Motor delay
MedGen UID:
381392
•Concept ID:
C1854301
•
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
See: Feature record | Search on this feature
Iris coloboma
MedGen UID:
116097
•Concept ID:
C0240063
•
Anatomical Abnormality
A coloboma of the iris.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Biomechanical analysis of the clinical characteristics of enlarged vestibular aqueduct syndrome with Mondini malformation.
Han JW, Wang L, Zhao H, Yang SM
Acta Otolaryngol 2020 Oct;140(10):813-817. Epub 2020 Jul 14 doi: 10.1080/00016489.2020.1780312. PMID: 32662706
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL
J Med Genet 2010 Jul;47(7):499-506. Epub 2010 May 27 doi: 10.1136/jmg.2009.075143. PMID: 20507924Free PMC Article
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G
Am J Hum Genet 2005 Dec;77(6):945-57. Epub 2005 Oct 19 doi: 10.1086/497996. PMID: 16380907Free PMC Article
ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.
Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM
Am J Med Genet 2002 Mar 15;108(3):223-5. doi: 10.1002/ajmg.10172. PMID: 11891690
De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.
Janecke AR, Nekahm D, Löffler J, Hirst-Stadlmann A, Müller T, Utermann G
Hum Genet 2001 Mar;108(3):269-70. doi: 10.1007/s004390100484. PMID: 11354642

Diagnosis

Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients.
Pál M, Nagy D, Neller A, Farkas K, Leprán-Török D, Nagy N, Füstös D, Nagy R, Németh A, Szilvássy J, Rovó L, Kiss JG, Széll M
Int J Mol Sci 2023 Apr 17;24(8) doi: 10.3390/ijms24087401. PMID: 37108562Free PMC Article
Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.
Gao X, Zhu QY, Song YS, Wang GJ, Yuan YY, Xin F, Huang SS, Kang DY, Han MY, Guan LP, Zhang JG, Dai P
J Transl Med 2013 Nov 9;11:284. doi: 10.1186/1479-5876-11-284. PMID: 24206587Free PMC Article
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL
J Med Genet 2010 Jul;47(7):499-506. Epub 2010 May 27 doi: 10.1136/jmg.2009.075143. PMID: 20507924Free PMC Article
GJB2 mutations and degree of hearing loss: a multicenter study.
Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G
Am J Hum Genet 2005 Dec;77(6):945-57. Epub 2005 Oct 19 doi: 10.1086/497996. PMID: 16380907Free PMC Article
Familial Mondini dysplasia.
Griffith AJ, Telian SA, Downs C, Gorski JL, Gebarski SS, Lalwani AK, Sheldon S
Laryngoscope 1998 Sep;108(9):1368-73. doi: 10.1097/00005537-199809000-00021. PMID: 9738759

Prognosis

A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family.
Chen S, Xu G, Zhao Z, Du J, Shen B, Li C
BMC Med Genomics 2024 Apr 26;17(1):108. doi: 10.1186/s12920-024-01878-8. PMID: 38671472Free PMC Article
ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.
Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM
Am J Med Genet 2002 Mar 15;108(3):223-5. doi: 10.1002/ajmg.10172. PMID: 11891690
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C
Nat Genet 2001 Jan;27(1):108-12. doi: 10.1038/83667. PMID: 11138009

Clinical prediction guides

A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family.
Chen S, Xu G, Zhao Z, Du J, Shen B, Li C
BMC Med Genomics 2024 Apr 26;17(1):108. doi: 10.1186/s12920-024-01878-8. PMID: 38671472Free PMC Article
De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.
Janecke AR, Nekahm D, Löffler J, Hirst-Stadlmann A, Müller T, Utermann G
Hum Genet 2001 Mar;108(3):269-70. doi: 10.1007/s004390100484. PMID: 11354642
Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.
Bolz H, von Brederlow B, Ramírez A, Bryda EC, Kutsche K, Nothwang HG, Seeliger M, del C-Salcedó Cabrera M, Vila MC, Molina OP, Gal A, Kubisch C
Nat Genet 2001 Jan;27(1):108-12. doi: 10.1038/83667. PMID: 11138009
Familial Mondini dysplasia.
Griffith AJ, Telian SA, Downs C, Gorski JL, Gebarski SS, Lalwani AK, Sheldon S
Laryngoscope 1998 Sep;108(9):1368-73. doi: 10.1097/00005537-199809000-00021. PMID: 9738759

Supplemental Content

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    Clinical resources

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
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