Edit concept Question Editor Create issue ticket

Autosomal Dominant Deafness 28

Autosomal Dominant Non-Syndromic Sensorineural Deafness Type DFNA


Presentation

  • Fifty-three loci have presently been reported. The 17 deafness forms for which the genes have been identified are presented.[ommbid.mhmedical.com]
  • Other PEDIATRICS American Journal of Neuroradiology September 2007, 28 (8) 1606-1608; DOI: Abstract SUMMARY: We present findings on MR imaging in 5 patients with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).[ajnr.org]
  • Deafness can present as part of a syndrome, for example Usher, Pendred, Jervell and Lange-Nielsen and Waardenburg syndromes.[centogene.com]
  • A pair of male siblings, aged 34 and 28 years each, presented with progressive diffuse optic atro-phy and neural hearing loss. No other systemic abnormalities were present.[webview.isho.jp]
  • The clinical features usually present earlier than FECD, and may be present at birth.[link.springer.com]
Camping
  • Important References Smith RJH, Shearer AE, Hildebrand MS, Van Camp G. Deafness and Hereditary Hearing Loss Overview. In: Pagon RA et al, editors. Gene Reviews, Seattle (WA): University of Washington, Seattle; 1993-2014. Van Camp G, Smith RJH.[iccons.co.in]
  • Authors The Hereditary Hearing loss Homepage is maintained by Guy Van Camp, University of Antwerp guy.vancamp@uantwerp.be Richard Smith, University of Iowa richard-smith@uiowa.edu If you want something to be included, or if you have other comments or[hereditaryhearingloss.org]
  • Van Camp G, Smith RJH. The Hereditary Hearing Loss Homepage. Available at hereditaryhearingloss.org . 2010. Accessed 12-29-11. Van Camp G, Willems PJ, Smith RJ. Nonsyndromic hearing impairment: unparalleled heterogeneity.[consilieregenetica.org]
  • Smith, Richard JH; Sheffield, Abraham M; Camp, Guy Van (19 April 2012). Nonsyndromic Hearing Loss and Deafness, DFNA3. PMID 20301708. NBK1536. In GeneReviews Smith, Richard JH; Camp, Guy Van (2 January 2014).[en.wikipedia.org]
  • Hum Mutat. 1998; 11(5):387-394. 9600457 Smith RJH, Van Camp G. Nonsyndromic hearing loss and deafness, DFNB1. GeneReviews. 2008 Sep 28 (updated 2011 Jul 14). Available at . Accessed September 10, 2009. 20301449 Sobe T, Vreugde S, Shahin H, et al.[labcorp.com]
Italian
  • This mutation has been reported once before in a small Italian family. No mutations were discovered in the TECTA gene.[research.library.mun.ca]
  • Journal Am J Hum Genet 72:73-82 (2003) DOI: 10.1086/345398 Reference PMID: 24211385 Authors Faletra F, Girotto G, D'Adamo AP, Vozzi D, Morgan A, Gasparini P Title A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic[genome.jp]
  • 雑誌 Am J Hum Genet 72:73-82 (2003) DOI: 10.1086/345398 文献 PMID: 24211385 著者 Faletra F, Girotto G, D'Adamo AP, Vozzi D, Morgan A, Gasparini P タイトル A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.[genome.jp]
  • Many researchers have determined the 35delG carrier, in which the highest carrier frequency has so far been found in Greeks and Italians, and this mutation seems to be particularly frequent in the Mediterranean population 27.[ejo.eg.net]
  • ., Tay-Sachs in Jewish or French Canadian populations, sickle cell disease in African Americans, cystic fibrosis among whites, Thalassemia among Italians, Greeks, and Asians.[www2.loras.edu]
Physician
  • Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and[books.google.com]
  • This option is available when the mutation is known and can be documented by the ordering physician. If the mutation cannot be documented, please order full gene sequencing.[labcorp.com]
  • Diagnosis of dementia in a heterogeneous population: a comparison of paradigm-based diagnosis and physician's diagnosis. Arch Neurol 1992;49461- 467 PubMed Google Scholar Crossref 29.[jamanetwork.com]
Piebaldism
  • […] hydroxysteroid 17-beta dehydrogenase 4 hydroxysteroid (17-beta) dehydrogenase 4 HSD17B4 SDR8C1 601860 5213 immunoglobulin-like domain containing receptor 1 deafness, autosomal recessive 42 ILDR1 DFNB42 609739 28741 KIT proto-oncogene receptor tyrosine kinase piebald[ukgtn.nhs.uk]
Hearing Impairment
  • A chapter on epidemiology includes the prevalence of hearing impairment and several additional chapters are devoted to the various causative factors.[books.google.com]
  • Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and growth/size/body region Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently[malacards.org]
  • So far, more than 400 genes have been identified which are responsible for hearing impairment. Syndromic Hearing Impairment Patterns of Inheritance Hearing deficits can be inherited in one of the four ways: 1. Autosomal dominant 2.[iccons.co.in]
  • This site lists data and links for all known gene localizations and identifications for monogenic nonsyndromic hearing impairment. For syndromic hearing impairment, only a few of the most frequent monogenic forms are covered.[hereditaryhearingloss.org]
  • Nonsyndromic hearing impairment: unparalleled heterogeneity.[consilieregenetica.org]
Hearing Impairment
  • A chapter on epidemiology includes the prevalence of hearing impairment and several additional chapters are devoted to the various causative factors.[books.google.com]
  • Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and growth/size/body region Disease Ontology : 12 An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently[malacards.org]
  • So far, more than 400 genes have been identified which are responsible for hearing impairment. Syndromic Hearing Impairment Patterns of Inheritance Hearing deficits can be inherited in one of the four ways: 1. Autosomal dominant 2.[iccons.co.in]
  • This site lists data and links for all known gene localizations and identifications for monogenic nonsyndromic hearing impairment. For syndromic hearing impairment, only a few of the most frequent monogenic forms are covered.[hereditaryhearingloss.org]
  • Nonsyndromic hearing impairment: unparalleled heterogeneity.[consilieregenetica.org]
Progressive Hearing Loss
  • Individual chapters give coverage to balance disorders, tinnitus, progressive hearing loss, auditory neuropathy, central auditory processing disorders and unilateral hearing impairment.[books.google.com]
  • Another OPA1 mutation (p.Tyr582Cys) is responsible for progressive hearing loss that necessitated cochlear implantation, macrocytic anemia, and hypogonadism [ 16 ].[molvis.org]
  • Syndromic causes include Alport, Pendred, Waardenburg, CHARGE, branchio-oto-renal and X-linked progressive hearing loss with perilymphatic gusher. Non-syndromic causes include autosomal dominant, autosomal recessive, X-linked and mitochondria.[journals.lww.com]
Hearing Problem
  • Congenital hearing loss As opposed to acquired hearing loss, congenital hearing loss indicates the hearing problem is present in the child at birth.[artofhearing.com.au]
  • As her father had been a machinist, he and his doctor had always thought his hearing problems were because of his occupation but he found out later it was Alport.[pediatriceducation.org]
  • Screening tests for the GJB2 gene are available for at-risk people to help them determine their risk of having a child with hearing problems.[entnet.org]
Tinnitus
  • Individual chapters give coverage to balance disorders, tinnitus, progressive hearing loss, auditory neuropathy, central auditory processing disorders and unilateral hearing impairment.[books.google.com]
  • Tinnitus was reported by some of the affected members, but no other consistent medical or physical abnormalities were detected.[nejm.org]
Suggestibility
  • ., 1997, Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am. J. ‏[books.google.com]
  • In the recessive model, 5 markers had LOD scores suggestive for linkage in the combined phenotypes and 3 markers were suggestive using the restricted phenotype.[jamanetwork.com]
  • SELECTED GENES FOR YOUR SLICE SUGGESTED CUSTOM SLICES Customize below OR enter Suggested Slice ID on printed requisition form (e.g. 706 XomeDx Slice - Slice ID: CS-Albinism).[genedx.com]
  • Authors The Hereditary Hearing loss Homepage is maintained by Guy Van Camp, University of Antwerp guy.vancamp@uantwerp.be Richard Smith, University of Iowa richard-smith@uiowa.edu If you want something to be included, or if you have other comments or suggestions[hereditaryhearingloss.org]
  • Finally, our study suggests that GJB2 should be screened for heterozygous mutations in patients with autosomal dominant isolated hearing impairment, whatever the severity of the disease.[jmg.bmj.com]
Anger
  • University Hospital, Angers, France Patrizia Amati-Bonneau Angers University Hospital, Angers, France Sharon Tow Singapore National Eye Centre, Singapore, Singapore Dominique Bonneau Angers University Hospital, Angers, France Vincent Procaccio Angers[iovs.arvojournals.org]
Cerebellar Ataxia
  • . 21, no 10, p. 2205-2210 Article in journal (Refereed) Published Abstract [en] Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is characterized by late onset (30-40 years old) cerebellar ataxia, sensory neuronal deafness, narcolepsy-cataplexy[diva-portal.org]
  • The atrophy of the superior vermis is common in both hereditary and acquired cerebellar ataxias but occurs more precociously in ARSACS, which suggests that it might be a congenital feature. 1, 3 In this report, MR imaging in our 5 patients demonstrated[ajnr.org]
  • ataxia, Pure 6, 5 11, 14, 15, 16, 22 Spasticity 3 1, 7 Peripheral neuropathy 3, 4, 18, 25 1 Cortical disorders Dementia 17, DRPLA 2, 13, 19, 21 Psychosis DRPLA, 17 3, 27 (Episodic) Epilepsy 10, DRPLA 17 Movement disorders Chorea DRPLA, 17 1 (Late stage[neuromuscular.wustl.edu]
  • Autosomal dominant cerebellar ataxias: a systematic review of clinical features. Eur J Neurol 2014; 21:607-615. Ruano L, Melo C, Silva MC, Coutinho P.[rarediseases.org]
Vertigo
  • Affected Family 2094 members carrying the mutation do present vestibular decline in the form of vertigo and balance difficulties.[research.library.mun.ca]
Dizziness
  • Author:Miyagawa, Maiko; Nishio, Shin-ya; Hattori, Mitsuru; Moteki, Hideaki; Kobayashi, Yumiko; Sato, Hiroaki; Watanabe, Tomoo; Naito, Yasushi; Oshikawa, Chie; Usami, Shin-ichi; Novel Mutations in GRXCRI at DFNB25 Lead to Progressive Hearing Loss and Dizziness[soar-rd.shinshu-u.ac.jp]

Workup

White Matter Lesions
  • Correlation Between White Matter Lesions and Intelligence Quotient in Patients With Congenital Cytomegalovirus Infection. Pediatr Neurol,55:52-7 2016(Feb.)[soar-rd.shinshu-u.ac.jp]

Treatment

  • Treatment Treatment Options: No effective treatment is available.[disorders.eyes.arizona.edu]
  • Stroke 41 (10), 2309-2315 , 2010 194 2010 Substance abuse among patients with treatment-resistant schizophrenia: characteristics and implications for clozapine therapy.[scholar.google.com]
  • Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.de]
  • Treatment All patients with ARVC should avoid physical exertion, which may precipitate arrhythmias. Any patient who has been clinically symptomatic should start beta-blocker therapy.[sinaiem.org]
  • Low risk Those with no symptoms, only mild regurgitation and stable examination findings, do not need treatment. These patients can be followed up conservatively.[patient.info]

Prognosis

  • Complications and prognosis [ 2 ] Anterior leaflet mitral valve repair is associated with a higher risk for re-operation than posterior leaflet repair.The overall prognosis is excellent for most patients with MVP, with an expected lifespan similar to[patient.info]
  • Prognosis All patients with Harboyan syndrome described to date are in good general health, with no other systemic features that reduce life expectancy.[link.springer.com]
  • Okada M, Iwasaki S, et al: The effect of initial treatment on hearing prognosis in idiopathic sudden sensorineural hearing loss: a nationwide survey in Japan. Acta Otolaryngol Mar 31:1-4, 2017.[mita.iuhw.ac.jp]
  • The effect of initial treatment on hearing prognosis in idiopathic sudden sensorineural hearing loss: a nationwide survey in Japan.[soar-rd.shinshu-u.ac.jp]
  • Correctly diagnosing the specific cause of hearing loss in an individual can provide information on prognosis and is essential for accurate genetic counseling . The following is usually required: Family history.[consilieregenetica.org]

Etiology

  • Non-syndromic forms are responsible for 70% of the cases of hereditary etiology and syndromic cases represent 30% of them.[genome.jp]
  • Etiologic diagnosis of sensorineural hearing loss in adults. Otolaryngol Head Neck Surg. 2005;132:890–895 2. Shen J, Deskin RW, Quinn JFB, Ryan MW Genetic hearing loss. 2004; Available at: www.utmb.edu/otoref/grnds/...hl-2004...[ejo.eg.net]
  • About two-thirds of expansion carriers have a positive family history of dementia of any etiology or motor neuron disease, with up to 85% exhibiting an autosomal dominant pattern [ 34, 38 ].[alzres.biomedcentral.com]
  • A Comprehensive Study on the Etiology of Patients Receiving Cochlear Implantation With Special Emphasis on Genetic Epidemiology. Otol Neurotol,37(2):e126-34 2016(Feb.) Author:Miyagawa M, Nishio SY, Usami S.[soar-rd.shinshu-u.ac.jp]
  • Prevention of Secondary Complications Regardless of its etiology, uncorrected hearing loss has consistent sequelae.[consilieregenetica.org]

Epidemiology

  • A chapter on epidemiology includes the prevalence of hearing impairment and several additional chapters are devoted to the various causative factors.[books.google.com]
  • Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular[books.google.com]
  • Epidemiology The prevalence of ARVC in the general population is 1 in 5000, but in some European populations, it reaches 1 in 2000.[sinaiem.org]
  • From the molecular data presently available, three main epidemiologic results emerge: (a) Mutations in the gene encoding a gap junction protein, connexin 26, account for about half of the cases of prelingual isolated deafness in Caucasian populations;[ommbid.mhmedical.com]
  • Further epidemiological studies are needed in order to determine the prevalence of ADOA in Singapore.[iovs.arvojournals.org]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology The pathophysiology of ARVC on the cellular level remains unclear, but may be caused by disruption of intercellular junctions in the myocardium. Myocyte separation may cause cell death, which increases afterload and wall stress.[sinaiem.org]
  • Each form is introduced by a brief history of how the gene was discovered, followed by the description of its clinical features and the established or putative role of the encoded protein, as well as the current hypotheses concerning the associated pathophysiological[ommbid.mhmedical.com]
  • Romero MF: Molecular pathophysiology of SLC4 bicarbonate transporters. Curr Opin Nephrol Hypertens. 2005, 14: 495-501. CrossRef PubMed Google Scholar 38.[link.springer.com]

Prevention

  • Current statistics can be found on the Early Hearing Detection & Intervention (EHDI) Program Web site published by the Centers for Disease Control and Prevention.[emedicine.medscape.com]
  • Biomarkers are required to identify individuals in the preclinical stage to target them for secondary prevention trials designed to preserve normal cognitive function.[stm.sciencemag.org]
  • See the video Genetic Screening: The Ultimate Preventive Medicine (KCTS/Seattle, 1980).[www2.loras.edu]
  • The differential diagnosis can be reviewed here Related Cases Disease: Alport Syndrome Kidney Diseases Hearing Disorders and Deafness Symptom/Presentation: Health Maintenance and Disease Prevention Hematuria Specialty: Nephrology / Urology Genetics Medical[pediatriceducation.org]
  • […] but not sufficient to prevent eventual hearing loss.[consilieregenetica.org]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!