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Autosomal Recessive Deafness 84B

Autosomal Recessive Non-Syndromic Sensorineural Deafness Type DFNB


Presentation

  • Presentation on theme: "Mutations in OTOGL, Encoding the Inner Ear Protein Otogelin-like, Cause Moderate Sensorineural Hearing Loss Kemal O.[slideplayer.com]
  • Fifty-three loci have presently been reported. The 17 deafness forms for which the genes have been identified are presented.[ommbid.mhmedical.com]
  • The comparison of phenotype and genotype reveals, however, that phenocopies generated by distinct environmental and/or genetic causes are present in this kindred and that the diagnosis of Pendred's syndrome may be difficult without molecular analysis.[scholars.northwestern.edu]
  • Flat SNHL was present in 148 ears out of 200 ears (74.0%). High-frequency SNHL was present in 15 ears (7.5%), steeply sloping SNHL was found in 13 ears (6.5%), and left corner SNHL was also found in 13 ears (6.5%).[ejo.eg.net]
  • […] on a perchlorate discharge test, in whom the hearing impairment presents as non-syndromic.[academic.oup.com]
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.de]
  • Consult your personal physician or other professional health care provider when seeking individualized treatment regarding your medical diagnosis or condition.[varsome.com]
  • If you see an error or omission on a physician's profile page, please contact us at refsvc@rchsd.org .[rchsd.org]
  • All variant calls, including SNVs, indels and CNVs, were discussed at an interdisciplinary meeting (Hearing Group Meeting) that includes physicians, geneticists, genetic counselors, scientists and bioinformaticians.[genomemedicine.biomedcentral.com]
Developmental Delay
  • Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay. Clinical Genetics, 91, 913-917. See on PubMed Oprescu, S.N., Griffin, L.B., Beg, A.A., and Antonellis, A. 2017.[antonellislab.hg.med.umich.edu]
  • If biotinidase deficiency is not recognized and corrected by daily addition of biotin to the diet, affected persons develop neurologic features such as seizures, hypertonia, developmental delay, ataxia, and visual problems.[nature.com]
Swelling
  • PKD is quite unusual compared to other kidney diseases because generally the kidneys shrivel, but in PKD they swell enormously.[medicalnewser.com]
Anemia
  • Panconi anemia syndrome. Arch. Otolaryngol. 92 (1970), 284. 40. Hvidberg-Hansen, J., and Jergensen, M. 8. The inner ear in Pendred's syndrome. Acta Otolaryngol. (Stockh.) 66 (1968), 129. 41. Rubenstein, M., Rubenstein, C., and Theodor, R.[healio.com]
Sepsis
  • .* Rubella may also cause middle-ear defects.14,15 There is evidence to suggest that early prenatal influenza and chickenpox may be teratogenic and that the ear may be affected.16 Neonatal sepsis due to infection of the mother's genital tract occasionally[healio.com]
Hearing Impairment
  • Symptoms of Deafness, autosomal recessive type 84b Clinical features : Imported from Human Phenotype Ontology (HPO) Ear malformation Hearing impairment Vestibular hypofunction Back to: « Deafness Autosomal recessive Diagnosis See also related information[familydiagnosis.com]
  • Hearing Impairment in Stickler Syndrome: a Systematic Review.” Orphanet Journal of Rare Diseases 7. APA Acke, F., Dhooge, I., Malfait, F., & De Leenheer, E. (2012). Hearing impairment in Stickler syndrome: a systematic review.[biblio.ugent.be]
  • , childhood-onset hearing impairment.[academic.oup.com]
  • impairment. 2 A linkage . . .[nejm.org]
  • Autosomal dominant nonsyndromic hearing impairment The characteristic phenotype of a person with autosomal dominant nonsyndromic hearing impairment is a progressive postlingual hearing loss that begins in the second to third decades of life.[nature.com]
Hyporeflexia
  • Vestibular examinations show evidence for vestibular hyporeflexia.[repository.ubn.ru.nl]
  • The progression of vestibular involvement was clearly documented and vestibular areflexia was found from the age of 47 years onwards, whereas younger individuals showed either severe hyporeflexia or unilateral caloric areflexia.[academic.oup.com]

Workup

Polyps
  • […] expirements26 hamartomatous polyposis-associated genes on patients with hamartomatous polyps in the GI tract has a hereditary Hamartomatous Polyposis Syndrome with an increased risk of cancer.[interactive-biosoftware.com]

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]
  • Acetazolamide in the treatment of X-linked retinoschisis maculopathy. Arch Ophthalmol. 2007;125:571-573. Grover S, Apushkin MA, Fishman GA. Topical dorzolamide for the treatment of cystoid macular edema in patients with retinitis pigmentosa.[rarediseases.org]
  • All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.[firstskinfoundation.org]
  • A more complete knowledge of genes involved in the auditory system will provide a foundation for better genetic counseling, clinical management and treatment options for HL.[grantome.com]
  • In this article, we review the current knowledge on ARCI, with a focus on clinical, histological, ultrastructural, genetic, molecular, and treatment-related aspects.[actasdermo.org]

Prognosis

  • PKD is a very difficult condition to give somebody a prognosis for, even though it can be fairly easily diagnosed, you can’t always tell somebody how quickly or slowly their kidneys are going to fail or even give them an idea of how severe or mild their[medicalnewser.com]

Etiology

  • In this study, we investigated the genetic etiology of autosomal recessive nonsyndromic hearing loss (ARNSHL) in a Turkish cohort including individuals with cochlear implant, who had a pedigree suggestive of an autosomal recessive inheritance.[figshare.com]
  • Despite the significant role of genetic factors in the etiology of HL, and astonishing success that has been achieved in the identification of approximately 70 genes for non-syndromic hearing loss (NSHL), much remains to be known about genes involved[grantome.com]
  • Prenatal etiologies are most likely to have occurred during the first trimester: maternal rubella and ingestion of teratogenic, ototoxic, or neurotoxic drugs are the best-known prenatal causes.[healio.com]
  • Common molecular etiology of patients with non-syndromic hearing loss in Tibetan, Tu nationality, and Mongolian patients in the northwest of China. Act otolaryngol (China) 133(9): 930-4.[journals.sbmu.ac.ir]
  • We have shown for the first time that an adverse drug event (ototoxicity), Mendelian disorders, and multi-cause, common phenotypes share related underlying genetic etiology.[clincancerres.aacrjournals.org]

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.de]
  • 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]
  • The application of NGS will greatly accelerate the pace of disease gene discovery and is now making molecular epidemiological studies of genetic deafness possible for the first time.[grantome.com]
  • Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population. J Invest Dermatol, 127,777-781 • Shahin H, Walsh T, Sobe T, Abu Sa'ed J, Abu Rayan A, Lee MK, Avraham KB, King M-C, Kanaan M (2006).[bethlehem.edu]
  • Molecular epidemiology of DFNB1 deafness in France. BMC Med Genet (5): 5. Saadat M, Ansari-Lari M, Farhud DD. 2004. Consanguineousmarriage in Iran. Ann HumBiol 31(2): 263-69.[journals.sbmu.ac.ir]
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]
  • Bardet-Biedl syndrome: Genetics, molecular pathophysiology, and disease management. Indian J Ophthalmol. 2016;64(9):620-7. Radtke ND, Aramant RB, Seiler MJ, Petry HM, Pidwell D.[rarediseases.org]

Prevention

  • TSL:5 OTOGL-206 ENST00000551340.5 2087 166aa ENSP00000449296 - H0YIF7 - 5' truncation in transcript evidence prevents annotation of the start of the CDS.[ensembl.org]
  • PREVENTION OF HEARING IMPAIRMENT An ideal therapy has not yet arrived to correct hearing loss through replacement or regeneration of inner and outer hair cells.[nature.com]
  • Interestingly the fist bump is used by people who’ve just had kidney transplants to avoid shaking hands with others in order to prevent passing on germs, as palm to palm handshakes are more likely to transfer germs which could compromise their newly transplanted[medicalnewser.com]
  • Polygenic analyses of both the adverse drug event and the general phenotype could be performed to quantify the shared genetic architecture and to provide the basis for not only clinical risk prediction, but also preventive and interventional strategies[clincancerres.aacrjournals.org]
  • For many years, this extreme heterogeneity hampered genetic studies because many different genetic forms of hearing loss give rise to similar clinical phenotypes, preventing the pooling of families in genetic linkage studies.[academic.oup.com]

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