Edit concept Question Editor Create issue ticket

Autosomal Recessive Deafness 84

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type DFNB


Presentation

  • Here, we present the genetic and molecular characteristics of a Kazakh family with an autosomal recessive non-syndromic hearing impairment, DFNB84.[ncbi.nlm.nih.gov]
  • The presentation of basic science underlying clinical otorhinolaryngology has been expanded, and molecular mechanisms and genetics of disease are presented.[books.google.ro]
  • Fifty-three loci have presently been reported. The 17 deafness forms for which the genes have been identified are presented.[ommbid.mhmedical.com]
  • According to a large study on 168 patients suffering from SSS 20, vertigo was present in 52% of cases and tinnitus in 4%.[kipdf.com]
Turkish
  • TMC1 appears to be a common cause of recessive deafness in consanguineous Indian, Pakistani, Turkish, and Tunisian families. Recessive mutations of TMC1 all result in a prelingual severe-to-profound SNHL.[entokey.com]
  • Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. Hum Mutat. 2005; 26 (6): 591[ DOI ][ PubMed ] 15. Kitajiri S, Makishima T, Friedman TB, Griffith AJ.[ircmj.com]
Developmental Delay
  • ., seizures, hypertonia, developmental delay, ataxia) & visual problems Some degree of HL is present in 75% of children who become symptomatic Cutaneous features (e.g., skin rash, alopecia, conjunctivitis) Neurologic & cutaneous manifestations resolve[ncbi.nlm.nih.gov]
Gagging
  • Pro R32L G to T at 95 Arg at 32 into Leu V84L G to C at 250 Val at 84 into Leu K15T A to C at 44 Lys at 15 into Thr V95M G to A at 283 Val at 95 into Met K122I A to T at 365 Lys at 122 into Ile N206S A to G at 617 Gln at 206 into Ser delE120 del of GAG[entokey.com]
  • The primers used in sequencing Cx26 were: CxG4352 -µ/5º-TCG GCC CCA GTG GTA CAG-3º (Mar.F)-forward; Cx873-4 /5º-CTG GGC AAT GCC TTA AAC TGG-3º (Mar.R)-reverse; Cx26A-µ (5º-TCT TTT CCA GAG CAA ACC GC-3º (Mar.[ejo.eg.net]

Workup

  • For example if a KNCQ1 mutation is found, additional cardiac workup may be warranted since mutations in this gene are also associated with cardiac rhythm abnormalities.[bcidaho.com]
  • The case of an 11-year-old girl with an objective tinnitus lasting from 1 year is herein presented, and the diagnostic workup performed in this unusual case is described. ...[kz.tantalize.us]

Treatment

  • See also the following treatment articles: Treatments for Deafness Causes See also causal information: Causes of Deafness • • • References Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C3554159/ • • • Note: This site is for informational[familydiagnosis.com]
  • Apply the latest treatment options in pediatric care with new chapters on pediatric sleep disorders, pediatric infectious disease, and evaluation and management of the infant airway.[books.google.com]
  • […] photographs of normal and abnormal skin conditions including images of rare conditions, this easily accessible resource is essential for pediatricians, neonatologists, and dermatologists as well as other healthcare professionals involved in the diagnosis and treatment[books.google.com]
  • Treatment Treatment Options: No treatment for the basic condition has been reported. Assistive hearing devices and tinted lenses could be helpful.[disorders.eyes.arizona.edu]
  • The findings bring cancer therapy one step closer to the promise of targeted treatments for patients, based on the genetic characteristics of their tumours....[bionews.org.uk]

Prognosis

  • Chardot C, Carton M, Spire-Bendelac N, et al: Prognosis of biliary atresia in the era of liver transplantation: French national study from 1986 to 1996. Hepatology 1999;30:606–611.[karger.com]
  • These factors lend credence to the theory that patients with GJB2 and GJB6 mutations may have a favorable prognosis following cochlear implantation, and that patients with other mutations or without a documented mutation may have a less favorable prognosis[bcidaho.com]
  • ., CT, MRI, and consultation with specialists) and to inform prognosis and treatment recommendations. Figure 2.[ncbi.nlm.nih.gov]

Etiology

  • Guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 2014; . Accessed June, 2014. Joint Committee on Infant Hearing.[bcidaho.com]
  • Alford RL, Arnos KS, Fox M, et al; ACMG Working Group on Update of Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss; Professional Practice and Guidelines Committee.[jamanetwork.com]
  • Parry-Romberg syndrome (PRS) is a sporadic disease of unknown etiology with typical onset in childhood or in young adults.[kz.tantalize.us]
  • Prevention of Secondary Complications Regardless of its etiology, uncorrected hearing loss has consistent sequelae.[ncbi.nlm.nih.gov]
  • 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]

Epidemiology

  • 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.ro]
  • 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]
  • Therefore, epidemiological evidence supports the hypothesis that there is a link between ARHL and dementia.[zdoc.site]
  • Pediatrics 109:E7 CrossRef PubMed Google Scholar Morton NE (1991) epidemiology of hearing impairment.[link.springer.com]
  • Chardot C, Carton M, Spire-Bendelac N, et al: Epidemiology of biliary atresia in France: a national study. J Hepatol 1999;31:1006–1013.[karger.com]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • The pathophysiology of CAPD is not fully understood, probably involves interhemispheric interaction and corpus callosum function.[zdoc.site]

Prevention

  • This research will help develop medicines that are desperately needed to prevent deafness and restore hearing'. The Dutch scientists, who were funded by the RNID, published their work in the American Journal of Human Genetics.[bionews.org.uk]
  • Protein coding - H0YIJ5 - 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.[ensembl.org]
  • Furthermore, regular follow-up must be undertaken in order to prevent other neurological deficits in the vertebrobasilar arterial territory.[kipdf.com]
  • […] as early as possible to prevent irreversible sequelae.[ncbi.nlm.nih.gov]
  • The aim of this paper is to focus on the new insights on epidemiological aspects, prevention, assessment and intervention strategies for older adults with HL who are at risk of developing dementia.[zdoc.site]

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!