Severe to Profound Deafness May Be Associated with MYH9-related Disease: Report of 4 Patients

Overview

Journal Acta Otorhinolaryngol Ital

Specialty Otorhinolaryngology

Date 2016 Dec 14

PMID 27958602

Citations 6

Authors

P Canzi

A Pecci

M Manfrin

E Rebecchi

C Zaninetti

V Bozzi

M Benazzo

Affiliations

Soon will be listed here.

Abstract

MYH9-related disease (MYH9-RD) is a rare genetic syndromic disorder characterised by congenital thrombocytopenia and is associated with the risk of developing progressive sensorineural hearing loss, nephropathy and presenile cataracts during childhood or adult life. All consecutive patients enrolled in the Italian Registry for MYH9-RD with severe to profound deafness were included in a retrospective study. The study population involved 147 Italian patients with MYH9-RD: hearing loss was identified in 52% of cases and only 4 patients (6%) presented severe to profound deafness at a mean age of 33 years. Deafness was associated with mild spontaneous bleeding in all patients and with kidney involvement in 3 cases. Cochlear implantation was carried out in 3 cases with benefit, and no major complications were observed. Diagnosis was performed about 28 years after the first clinical manifestation of MYH9-RD, which was never suspected by an otolaryngologist. The clinical and diagnostic aspects of 4 patients with severe to profound deafness are discussed with a focus on therapeutic implications.

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References

Martini A, Calzolari F, Sensi A . Genetic syndromes involving hearing. Int J Pediatr Otorhinolaryngol. 2010; 73 Suppl 1:S2-12. DOI: 10.1016/S0165-5876(09)70002-3. View

Grasso D, Hatzopulos S, Cossu P, Ciarafoni F, Rossi M, Martini A . Role of the "rooming-in" on efficacy of universal neonatal hearing screening programmes. Acta Otorhinolaryngol Ital. 2009; 28(5):243-6. PMC: 2689529. View

Raine C, Summerfield Q, Strachan D, Martin J, Totten C . The cost and analysis of nonuse of cochlear implants. Otol Neurotol. 2007; 29(2):221-4. DOI: 10.1097/mao.0b013e31815c25a1. View

Bitner-Glindzicz M . Hereditary deafness and phenotyping in humans. Br Med Bull. 2002; 63:73-94. DOI: 10.1093/bmb/63.1.73. View

Berrettini S, Arslan E, Baggiani A, Burdo S, Cassandro E, Cuda D . Analysis of the impact of professional involvement in evidence generation for the HTA Process, subproject "cochlear implants": methodology, results and recommendations. Acta Otorhinolaryngol Ital. 2012; 31(5):273-80. PMC: 3262413. View

Savoia A, De Rocco D, Panza E, Bozzi V, Scandellari R, Loffredo G . Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. Thromb Haemost. 2010; 103(4):826-32. DOI: 10.1160/TH09-08-0593. View

Hilgert N, Smith R, Van Camp G . Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?. Mutat Res. 2008; 681(2-3):189-196. PMC: 2847850. DOI: 10.1016/j.mrrev.2008.08.002. View

Tekin D, Tutar E, Ozturkmen Akay H, Blanton S, Foster 2nd J, Tekin M . Comprehensive genetic testing can save lives in hereditary hearing loss. Clin Genet. 2014; 87(2):190-1. PMC: 5483945. DOI: 10.1111/cge.12376. View

Pecci A, Klersy C, Gresele P, Lee K, De Rocco D, Bozzi V . MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Hum Mutat. 2013; 35(2):236-47. PMC: 6233870. DOI: 10.1002/humu.22476. View

10.

Pecci A, Biino G, Fierro T, Bozzi V, Mezzasoma A, Noris P . Alteration of liver enzymes is a feature of the MYH9-related disease syndrome. PLoS One. 2012; 7(4):e35986. PMC: 3338476. DOI: 10.1371/journal.pone.0035986. View

11.

Saposnik B, Binard S, Fenneteau O, Nurden A, Nurden P, Hurtaud-Roux M . Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders. Mol Genet Genomic Med. 2014; 2(4):297-312. PMC: 4113270. DOI: 10.1002/mgg3.68. View

12.

De Rocco D, Zieger B, Platokouki H, Heller P, Pastore A, Bottega R . MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations. Eur J Med Genet. 2012; 56(1):7-12. PMC: 3546164. DOI: 10.1016/j.ejmg.2012.10.009. View

13.

Fortnum H, Summerfield A, Marshall D, Davis A, Bamford J . Prevalence of permanent childhood hearing impairment in the United Kingdom and implications for universal neonatal hearing screening: questionnaire based ascertainment study. BMJ. 2001; 323(7312):536-40. PMC: 48157. DOI: 10.1136/bmj.323.7312.536. View

14.

Pecci A, Panza E, Pujol-Moix N, Klersy C, Di Bari F, Bozzi V . Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat. 2007; 29(3):409-17. DOI: 10.1002/humu.20661. View

15.

Althaus K, Greinacher A . MYH-9 Related Platelet Disorders: Strategies for Management and Diagnosis. Transfus Med Hemother. 2010; 37(5):260-267. PMC: 2980510. DOI: 10.1159/000320335. View

16.

Archbold S, Nikolopoulos T, Lloyd-Richmond H . Long-term use of cochlear implant systems in paediatric recipients and factors contributing to non-use. Cochlear Implants Int. 2008; 10(1):25-40. DOI: 10.1179/cim.2009.10.1.25. View

17.

Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C . Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. Nat Genet. 2000; 26(1):103-5. DOI: 10.1038/79063. View

18.

Vicente-Manzanares M, Ma X, Adelstein R, Horwitz A . Non-muscle myosin II takes centre stage in cell adhesion and migration. Nat Rev Mol Cell Biol. 2009; 10(11):778-90. PMC: 2834236. DOI: 10.1038/nrm2786. View

19.

Kelley M, Jawien W, Ortel T, Korczak J . Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet. 2000; 26(1):106-8. DOI: 10.1038/79069. View

20.

Sekine T, Konno M, Sasaki S, Moritani S, Miura T, Wong W . Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. Kidney Int. 2010; 78(2):207-14. DOI: 10.1038/ki.2010.21. View