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Autosomal dominant nonsyndromic hearing loss 13(DFNA13)

MedGen UID:
400917
•Concept ID:
C1866095
•
Disease or Syndrome
Synonyms: Deafness, autosomal dominant 13; DFNA13 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): COL11A2 (6p21.32)
 
Monarch Initiative: MONDO:0011159
OMIM®: 601868

Definition

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene. [from MONDO]

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.
Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S
PLoS One 2013;8(5):e63231. Epub 2013 May 23 doi: 10.1371/journal.pone.0063231. PMID: 23717403Free PMC Article
A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.
Kamada F, Kure S, Kudo T, Suzuki Y, Oshima T, Ichinohe A, Kojima K, Niihori T, Kanno J, Narumi Y, Narisawa A, Kato K, Aoki Y, Ikeda K, Kobayashi T, Matsubara Y
J Hum Genet 2006;51(5):455-460. Epub 2006 Apr 5 doi: 10.1007/s10038-006-0384-7. PMID: 16596322

Recent clinical studies

Etiology

Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017Free PMC Article
Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.
Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S
PLoS One 2013;8(5):e63231. Epub 2013 May 23 doi: 10.1371/journal.pone.0063231. PMID: 23717403Free PMC Article
Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree.
Meyer CG, Gasmelseed NM, Mergani A, Magzoub MM, Muntau B, Thye T, Horstmann RD
Hum Mutat 2005 Jan;25(1):100. doi: 10.1002/humu.9302. PMID: 15605408

Diagnosis

Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing loss.
Bueno AS, Nunes K, Dias AMM, Alves LU, Mendes BCA, Sampaio-Silva J, Smits J, Yntema HG, Meyer D, Lezirovitz K, Mingroni-Netto RC
Eur J Hum Genet 2022 Jan;30(1):13-21. Epub 2021 May 6 doi: 10.1038/s41431-021-00891-0. PMID: 33953343Free PMC Article
Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017Free PMC Article
Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.
Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S
PLoS One 2013;8(5):e63231. Epub 2013 May 23 doi: 10.1371/journal.pone.0063231. PMID: 23717403Free PMC Article
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
Hilgert N, Smith RJH, Van Camp G
Mutat Res 2009 Mar-Jun;681(2-3):189-196. Epub 2008 Aug 29 doi: 10.1016/j.mrrev.2008.08.002. PMID: 18804553Free PMC Article
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ
Am J Hum Genet 1998 Apr;62(4):792-9. doi: 10.1086/301807. PMID: 9529365Free PMC Article

Clinical prediction guides

Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.
Naito T, Nishio SY, Iwasa Y, Yano T, Kumakawa K, Abe S, Ishikawa K, Kojima H, Namba A, Oshikawa C, Usami S
PLoS One 2013;8(5):e63231. Epub 2013 May 23 doi: 10.1371/journal.pone.0063231. PMID: 23717403Free PMC Article
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.
Hildebrand MS, Morín M, Meyer NC, Mayo F, Modamio-Hoybjor S, Mencía A, Olavarrieta L, Morales-Angulo C, Nishimura CJ, Workman H, DeLuca AP, del Castillo I, Taylor KR, Tompkins B, Goodman CW, Schrauwen I, Wesemael MV, Lachlan K, Shearer AE, Braun TA, Huygen PL, Kremer H, Van Camp G, Moreno F, Casavant TL, Smith RJ, Moreno-Pelayo MA
Hum Mutat 2011 Jul;32(7):825-34. Epub 2011 Jun 7 doi: 10.1002/humu.21512. PMID: 21520338Free PMC Article
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.
Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FP, Cremers CW, Brunner HG, de Brouwer AP, Kremer H
Hum Mutat 2005 Dec;26(6):591. doi: 10.1002/humu.9384. PMID: 16287143
Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree.
Meyer CG, Gasmelseed NM, Mergani A, Magzoub MM, Muntau B, Thye T, Horstmann RD
Hum Mutat 2005 Jan;25(1):100. doi: 10.1002/humu.9302. PMID: 15605408
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ
Am J Hum Genet 1998 Apr;62(4):792-9. doi: 10.1086/301807. PMID: 9529365Free PMC Article

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