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Hearing loss, autosomal dominant 85(DFNA85)

MedGen UID:
1824075
•Concept ID:
C5774302
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 85
 
Gene (location): USP48 (1p36.12)
 
Monarch Initiative: MONDO:0859366
OMIM®: 620227

Definition

Autosomal dominant deafness-85 (DFNA85) is characterized by nonsyndromic progressive sensorineural hearing loss, with onset in childhood or young adulthood (Bassani et al., 2021). [from OMIM]

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
Cochlear nerve hypoplasia
MedGen UID:
902316
•Concept ID:
C4230952
•
Congenital Abnormality
A developmental defect characterized by underdevelopment of the cochlear nerve.
See: Feature record | Search on this feature

Professional guidelines

PubMed

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.
Pecci A, Klersy C, Gresele P, Lee KJ, De Rocco D, Bozzi V, Russo G, Heller PG, Loffredo G, Ballmaier M, Fabris F, Beggiato E, Kahr WH, Pujol-Moix N, Platokouki H, Van Geet C, Noris P, Yerram P, Hermans C, Gerber B, Economou M, De Groot M, Zieger B, De Candia E, Fraticelli V, Kersseboom R, Piccoli GB, Zimmermann S, Fierro T, Glembotsky AC, Vianello F, Zaninetti C, Nicchia E, Güthner C, Baronci C, Seri M, Knight PJ, Balduini CL, Savoia A
Hum Mutat 2014 Feb;35(2):236-47. Epub 2013 Dec 12 doi: 10.1002/humu.22476. PMID: 24186861Free PMC Article

Recent clinical studies

Etiology

Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta.
Mei Y, Zhang H, Zhang Z
Front Endocrinol (Lausanne) 2022;13:935905. Epub 2022 Jul 14 doi: 10.3389/fendo.2022.935905. PMID: 35909573Free PMC Article
COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.
Ramzan K, Imtiaz F, Taibah K, Alnufiee S, Akhtar M, Al-Hazzaa SA, Al-Owain M
Int J Pediatr Otorhinolaryngol 2014 Mar;78(3):427-32. Epub 2013 Dec 18 doi: 10.1016/j.ijporl.2013.12.008. PMID: 24398087
Familial clustering and genetic heterogeneity in Meniere's disease.
Requena T, Espinosa-Sanchez JM, Cabrera S, Trinidad G, Soto-Varela A, Santos-Perez S, Teggi R, Perez P, Batuecas-Caletrio A, Fraile J, Aran I, Martin E, Benitez J, Pérez-Fernández N, Lopez-Escamez JA
Clin Genet 2014 Mar;85(3):245-52. Epub 2013 Apr 9 doi: 10.1111/cge.12150. PMID: 23521103
A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment.
Kemperman MH, De Leenheer EM, Huygen PL, van Wijk E, van Duijnhoven G, Cremers FP, Kremer H, Cremers CW
Arch Otolaryngol Head Neck Surg 2004 Mar;130(3):281-8. doi: 10.1001/archotol.130.3.281. PMID: 15023833
Molecular aspects of Alport's syndrome.
Weber M, Netzer KO, Pullig O
Clin Investig 1992 Sep;70(9):809-15. doi: 10.1007/BF00180752. PMID: 1450636

Diagnosis

Osteogenesis imperfecta.
Marini JC, Forlino A, Bächinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F, Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit K, Semler O
Nat Rev Dis Primers 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52. PMID: 28820180
Familial clustering and genetic heterogeneity in Meniere's disease.
Requena T, Espinosa-Sanchez JM, Cabrera S, Trinidad G, Soto-Varela A, Santos-Perez S, Teggi R, Perez P, Batuecas-Caletrio A, Fraile J, Aran I, Martin E, Benitez J, Pérez-Fernández N, Lopez-Escamez JA
Clin Genet 2014 Mar;85(3):245-52. Epub 2013 Apr 9 doi: 10.1111/cge.12150. PMID: 23521103
TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families.
Tlili A, Rebeh IB, Aifa-Hmani M, Dhouib H, Moalla J, Tlili-Chouchène J, Said MB, Lahmar I, Benzina Z, Charfedine I, Driss N, Ghorbel A, Ayadi H, Masmoudi S
Audiol Neurootol 2008;13(4):213-8. Epub 2008 Feb 7 doi: 10.1159/000115430. PMID: 18259073
Non-syndromic, autosomal-recessive deafness.
Petersen MB, Willems PJ
Clin Genet 2006 May;69(5):371-92. doi: 10.1111/j.1399-0004.2006.00613.x. PMID: 16650073
Stickler's syndrome (hereditary progressive arthro-ophthalmopathy).
Popkin JS, Polomeno RC
Can Med Assoc J 1974 Nov 16;111(10):1071-6. PMID: 4429933Free PMC Article

Therapy

Genetic and clinical features of 42 kindreds with resistance to thyroid hormone. The National Institutes of Health Prospective Study.
Brucker-Davis F, Skarulis MC, Grace MB, Benichou J, Hauser P, Wiggs E, Weintraub BD
Ann Intern Med 1995 Oct 15;123(8):572-83. doi: 10.7326/0003-4819-123-8-199510150-00002. PMID: 7677297
Molecular aspects of Alport's syndrome.
Weber M, Netzer KO, Pullig O
Clin Investig 1992 Sep;70(9):809-15. doi: 10.1007/BF00180752. PMID: 1450636

Prognosis

COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.
Ramzan K, Imtiaz F, Taibah K, Alnufiee S, Akhtar M, Al-Hazzaa SA, Al-Owain M
Int J Pediatr Otorhinolaryngol 2014 Mar;78(3):427-32. Epub 2013 Dec 18 doi: 10.1016/j.ijporl.2013.12.008. PMID: 24398087
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.
Pecci A, Klersy C, Gresele P, Lee KJ, De Rocco D, Bozzi V, Russo G, Heller PG, Loffredo G, Ballmaier M, Fabris F, Beggiato E, Kahr WH, Pujol-Moix N, Platokouki H, Van Geet C, Noris P, Yerram P, Hermans C, Gerber B, Economou M, De Groot M, Zieger B, De Candia E, Fraticelli V, Kersseboom R, Piccoli GB, Zimmermann S, Fierro T, Glembotsky AC, Vianello F, Zaninetti C, Nicchia E, Güthner C, Baronci C, Seri M, Knight PJ, Balduini CL, Savoia A
Hum Mutat 2014 Feb;35(2):236-47. Epub 2013 Dec 12 doi: 10.1002/humu.22476. PMID: 24186861Free PMC Article
Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull 2009 Aug;56(3):105-52. PMID: 19728970
A locus for autosomal dominant progressive non-syndromic hearing loss, DFNA27, is on chromosome 4q12-13.1.
Peters LM, Fridell RA, Boger ET, San Agustin TB, Madeo AC, Griffith AJ, Friedman TB, Morell RJ
Clin Genet 2008 Apr;73(4):367-72. Epub 2008 Feb 13 doi: 10.1111/j.1399-0004.2008.00966.x. PMID: 18279434
A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment.
Kemperman MH, De Leenheer EM, Huygen PL, van Wijk E, van Duijnhoven G, Cremers FP, Kremer H, Cremers CW
Arch Otolaryngol Head Neck Surg 2004 Mar;130(3):281-8. doi: 10.1001/archotol.130.3.281. PMID: 15023833

Clinical prediction guides

Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta.
Mei Y, Zhang H, Zhang Z
Front Endocrinol (Lausanne) 2022;13:935905. Epub 2022 Jul 14 doi: 10.3389/fendo.2022.935905. PMID: 35909573Free PMC Article
COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.
Ramzan K, Imtiaz F, Taibah K, Alnufiee S, Akhtar M, Al-Hazzaa SA, Al-Owain M
Int J Pediatr Otorhinolaryngol 2014 Mar;78(3):427-32. Epub 2013 Dec 18 doi: 10.1016/j.ijporl.2013.12.008. PMID: 24398087
Familial clustering and genetic heterogeneity in Meniere's disease.
Requena T, Espinosa-Sanchez JM, Cabrera S, Trinidad G, Soto-Varela A, Santos-Perez S, Teggi R, Perez P, Batuecas-Caletrio A, Fraile J, Aran I, Martin E, Benitez J, Pérez-Fernández N, Lopez-Escamez JA
Clin Genet 2014 Mar;85(3):245-52. Epub 2013 Apr 9 doi: 10.1111/cge.12150. PMID: 23521103
Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.
Yang S, Dai P, Liu X, Kang D, Zhang X, Yang W, Zhou C, Yang S, Yuan H
PLoS One 2013;8(10):e77149. Epub 2013 Oct 23 doi: 10.1371/journal.pone.0077149. PMID: 24194866Free PMC Article
A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment.
Kemperman MH, De Leenheer EM, Huygen PL, van Wijk E, van Duijnhoven G, Cremers FP, Kremer H, Cremers CW
Arch Otolaryngol Head Neck Surg 2004 Mar;130(3):281-8. doi: 10.1001/archotol.130.3.281. PMID: 15023833

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