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Autosomal recessive nonsyndromic hearing loss 27(DFNB27)

MedGen UID:
381303
•Concept ID:
C1853941
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 27
 
Monarch Initiative: MONDO:0011602
OMIM®: 605818

Definition

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 2q23-q31. [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  

Recent clinical studies

Etiology

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M
Ear Hear 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. PMID: 34753855Free PMC Article
Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China.
Lin Y, Yu F, Jiao Y, Zhou F
J Int Adv Otol 2019 Aug;15(2):247-252. doi: 10.5152/iao.2019.6512. PMID: 31347505Free PMC Article
GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness.
Trabelsi M, Bahri W, Habibi M, Zainine R, Maazoul F, Ghazi B, Chaabouni H, Mrad R
Int J Pediatr Otorhinolaryngol 2013 May;77(5):714-6. Epub 2013 Feb 19 doi: 10.1016/j.ijporl.2013.01.024. PMID: 23434199
Detection of the 35delG/GJB2 and del(GJB6-D13S1830) mutations in Venezuelan patients with autosomal recessive nonsyndromic hearing loss.
Utrera R, Ridaura V, Rodríguez Y, Rojas MJ, Mago L, Angeli S, Henríquez O
Genet Test 2007 Winter;11(4):347-52. doi: 10.1089/gte.2006.0526. PMID: 18294049
Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States.
Lim LH, Bradshaw JK, Guo Y, Pilipenko V, Madden C, Ingala D, Keddache M, Choo DI, Wenstrup R, Greinwald JH Jr
Arch Otolaryngol Head Neck Surg 2003 Aug;129(8):836-40. doi: 10.1001/archotol.129.8.836. PMID: 12925341

Diagnosis

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M
Ear Hear 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. PMID: 34753855Free PMC Article
Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.
Chakchouk I, Zhang D, Zhang Z, Francioli LC, Santos-Cortez RLP, Schrauwen I, Leal SM
Eur J Hum Genet 2019 Sep;27(9):1456-1465. Epub 2019 May 3 doi: 10.1038/s41431-019-0417-2. PMID: 31053783Free PMC Article
Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy.
Altarescu G, Eldar-Geva T, Brooks B, Zylber-Haran E, Varshaver I, Margalioth EJ, Levy-Lahad E, Renbaum P
J Assist Reprod Genet 2009 Jul;26(7):391-7. doi: 10.1007/s10815-009-9335-5. PMID: 19728075Free PMC Article
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss.
Kalay E, Li Y, Uzumcu A, Uyguner O, Collin RW, Caylan R, Ulubil-Emiroglu M, Kersten FF, Hafiz G, van Wijk E, Kayserili H, Rohmann E, Wagenstaller J, Hoefsloot LH, Strom TM, Nürnberg G, Baserer N, den Hollander AI, Cremers FP, Cremers CW, Becker C, Brunner HG, Nürnberg P, Karaguzel A, Basaran S, Kubisch C, Kremer H, Wollnik B
Hum Mutat 2006 Jul;27(7):633-9. doi: 10.1002/humu.20368. PMID: 16752389
Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States.
Lim LH, Bradshaw JK, Guo Y, Pilipenko V, Madden C, Ingala D, Keddache M, Choo DI, Wenstrup R, Greinwald JH Jr
Arch Otolaryngol Head Neck Surg 2003 Aug;129(8):836-40. doi: 10.1001/archotol.129.8.836. PMID: 12925341

Prognosis

A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
Chung J, Park SM, Chang SO, Chung T, Lee KY, Kim AR, Park JH, Kim V, Park WY, Oh SH, Kim D, Park WJ, Choi BY
J Mol Med (Berl) 2014 Jun;92(6):651-63. Epub 2014 Feb 15 doi: 10.1007/s00109-014-1128-3. PMID: 24526180
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.
González JR, Wang W, Ballana E, Estivill X
Hum Mutat 2006 Nov;27(11):1135-42. doi: 10.1002/humu.20390. PMID: 16941638Free PMC Article

Clinical prediction guides

Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China.
Lin Y, Yu F, Jiao Y, Zhou F
J Int Adv Otol 2019 Aug;15(2):247-252. doi: 10.5152/iao.2019.6512. PMID: 31347505Free PMC Article
Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry.
Chakchouk I, Zhang D, Zhang Z, Francioli LC, Santos-Cortez RLP, Schrauwen I, Leal SM
Eur J Hum Genet 2019 Sep;27(9):1456-1465. Epub 2019 May 3 doi: 10.1038/s41431-019-0417-2. PMID: 31053783Free PMC Article
Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy.
Altarescu G, Eldar-Geva T, Brooks B, Zylber-Haran E, Varshaver I, Margalioth EJ, Levy-Lahad E, Renbaum P
J Assist Reprod Genet 2009 Jul;26(7):391-7. doi: 10.1007/s10815-009-9335-5. PMID: 19728075Free PMC Article
A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.
González JR, Wang W, Ballana E, Estivill X
Hum Mutat 2006 Nov;27(11):1135-42. doi: 10.1002/humu.20390. PMID: 16941638Free PMC Article
Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States.
Lim LH, Bradshaw JK, Guo Y, Pilipenko V, Madden C, Ingala D, Keddache M, Choo DI, Wenstrup R, Greinwald JH Jr
Arch Otolaryngol Head Neck Surg 2003 Aug;129(8):836-40. doi: 10.1001/archotol.129.8.836. PMID: 12925341

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