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Deafness, autosomal recessive 26, modifier of(DFNB26M)

MedGen UID:
340184
•Concept ID:
C1854274
•
Finding
Synonyms: Deafness, nonsyndromic, modifier 1; DFNB26M; DFNM1
 
Gene (location): METTL13 (1q24.3)
 
OMIM®: 605429

Definition

DFNB26M is characterized by normal hearing despite the presence of homozygosity for a causative deafness mutation in the GAB1 gene (Yousaf et al., 2018). [from OMIM]

Recent clinical studies

Etiology

Functional Vision in Patients With Biallelic USH2A Variants.
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: 38135239Free PMC Article
Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.
Yousaf R, Ahmed ZM, Giese AP, Morell RJ, Lagziel A, Dabdoub A, Wilcox ER, Riazuddin S, Friedman TB, Riazuddin S
J Clin Invest 2018 Apr 2;128(4):1509-1522. Epub 2018 Mar 12 doi: 10.1172/JCI97350. PMID: 29408807Free PMC Article
Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1).
Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ, Schaefer GB, Gobar LS, Hahn FJ, Harris DJ, Kimberling WJ
Pediatrics 1999 Mar;103(3):546-50. doi: 10.1542/peds.103.3.546. PMID: 10049954

Diagnosis

Functional Vision in Patients With Biallelic USH2A Variants.
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: 38135239Free PMC Article

Prognosis

Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.
Yousaf R, Ahmed ZM, Giese AP, Morell RJ, Lagziel A, Dabdoub A, Wilcox ER, Riazuddin S, Friedman TB, Riazuddin S
J Clin Invest 2018 Apr 2;128(4):1509-1522. Epub 2018 Mar 12 doi: 10.1172/JCI97350. PMID: 29408807Free PMC Article

Clinical prediction guides

Functional Vision in Patients With Biallelic USH2A Variants.
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: 38135239Free PMC Article
Investigation of the hearing levels of siblings affected by a single GJB2 variant: Possibility of genetic modifiers.
Hosoya M, Fujioka M, Nara K, Morimoto N, Masuda S, Sugiuchi T, Katsunuma S, Takagi A, Morita N, Ogawa K, Kaga K, Matsunaga T
Int J Pediatr Otorhinolaryngol 2021 Oct;149:110840. Epub 2021 Jul 12 doi: 10.1016/j.ijporl.2021.110840. PMID: 34293626
Differences in hearing levels between siblings with hearing loss caused by GJB2 mutations.
Fujioka M, Hosoya M, Nara K, Morimoto N, Sakamoto H, Otsu M, Nakano A, Arimoto Y, Masuda S, Sugiuchi T, Masuda S, Morita N, Ogawa K, Kaga K, Matsunaga T
Auris Nasus Larynx 2020 Dec;47(6):938-942. Epub 2020 Jun 15 doi: 10.1016/j.anl.2020.05.008. PMID: 32553771
Modifier variant of METTL13 suppresses human GAB1-associated profound deafness.
Yousaf R, Ahmed ZM, Giese AP, Morell RJ, Lagziel A, Dabdoub A, Wilcox ER, Riazuddin S, Friedman TB, Riazuddin S
J Clin Invest 2018 Apr 2;128(4):1509-1522. Epub 2018 Mar 12 doi: 10.1172/JCI97350. PMID: 29408807Free PMC Article
Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1).
Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ, Schaefer GB, Gobar LS, Hahn FJ, Harris DJ, Kimberling WJ
Pediatrics 1999 Mar;103(3):546-50. doi: 10.1542/peds.103.3.546. PMID: 10049954

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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