Heritable Vestibular Disorders

ABSTRACT

Both genetics and audiology have changed radically over the past 20 years. The impetus from the worldwide focus on genetics is beginning to spur interest in the study and implications of heritable vestibular problems. Currently, there are over 500 syndromic conditions and approximately 50 nonsyndromic conditions within the nuclear DNA that are known to involve the audiovestibular (AV) system. Adding to the disorders passed on through Mendelian inheritance are the mitochondrial disorders. Increasingly, clinical data demonstrate that most mitochondrial diseases include significant AV system damage. These facts suggest a change in clinical perspective for audiologists. Vestibular dysfunction has not been well delineated in this population of patients. Numbers of such patients requiring expertise in the area of heritable vestibular disorders are likely to grow substantially. Examining and managing vestibular disorders from the perspective of a broader or an underlying heritable condition is in order at this time.

KEYWORDS

Audiovestibular (AV) genetics - heritable - Mendelian - mitochondrial

REFERENCES

• 1 http://www.nature.com/nsu/010830/010830-4.html . 
• 2 http://www.uia.ac.be/dnalab/hhh/main.html . 
• 3 http://www.boystown.org/btnrh/deafgene.reg/ . 
• 4 http://medhlp.netusa.net/lib/heredeaf.htm . 
• 5 http://www.teleport.com/~veda/ overview.html#Causes . 
• 6 http://www.nidcd.nih.gov/health/pubs_hb/ balance_disorders.htm . 
• 7 http://www.earinfosite.org/eci_dizziness_ glossary.thm . 
• 8 http://www.teleport.com/~veda/index.shtml . 
• 9 http://www.uia.ac.be/dnalab/hhh/mito.html . 
• 10 http://www.tchain.com/otoneurology/disorders/ central/mddl.html . 
• 11 http://clinicaltrials.gov/ . 
• 12 Astuto L M, Weston M D, Carney C A. Genetic heterogeneity of Ushers syndrome; analysis of 151 families with Usher type I.  Am J Hum Genet . 2000;  67 1569-1574
• 13 Sun J C, vanAlphen A M, Wagenaar M. Origin of vestibular dysfunction in Usher syndrome type 1B.  Neurobio Dis . 2001;  8 68-77
• 14 http://www.geneclinics.org/ . 
• 15 http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?113650 . 
• 16 http://www.geneclinics.org/servlet/access? db=geneclinics&id=8888889&key=ysDabIV8e9MA6&gry=&fcn=y&fw=CAFT&filename=/profiles/ pendred/index.html . 
• 17 Iwasaki S, Usami S, Abe S. Long-term audiological feature in Pendred syndrome caused by PDS mutation.  Arch Otolaryngol Head Neck Surg . 2001;  127 705-708
• 18 http://www.geneclinics.org/servlet/access? db=geneclinics&id=8888889&key=3bYDK8B25N-1C&gry=&fcn=y&fw=NaaX&filename=/ profiles/nf2/index.html . 
• 19 http://www.geneclinics.org/servlet/access? db=geneclinics&id=8888889&key=3bYDK8B25N-1C&gry=&fcn=y&fw=7fbP&filename=/ profiles/ws1/index.html . 
• 20 Grundfast K, San Augustin T. Finding the gene for Waardenburg syndrome(s).  Otolaryngol Clin N Am . 1992;  25 945
• 21 Black F O, Pesznecker S C, Allen K, Gianna C. A vestibular phenotype for Waardenburg Syndrome?.  Otol Neurotol . 2001;  22 188-194
• 22 http://www.nidcd.nih.gov/health/pubs/hb/waard. 
• 23 http://www.geneclinics.org/servlet/access?qry=von-hippel+lindau&submit=Search&grp=b&ls=c&type=e&db=genestar&fcn=b&res=&key=3bYDK8B25N-1C&id=8888889&submit=Search . 
• 24 Pikus A T, Berge B E, Sledjeski K. Premlinary audiologic findings in Von Hippel-Lindau Disease (VHL). Paper presented at the International Audiology Society Meeting, Bari, Italy, June 1996
• 25 http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?302905 . 
• 26 Abadie V, Wiener-Vacher S, Morisseau-Durand M P. Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development.  Eur J Pediatr . 2000;  159 569-574
• 27 Griffith A J, Gebarski S S, Shepard N T, Kileny P R. Audiovestibular phenotype associated with a CIL11A1 mutation in Marshall syndrome.  Arch Otolaryngol Head Neck Surg . 2000;  126 891-894
• 28 http://www.ncbi.nlm.nih.gov/htbin-post/Omim/ dispmimn?154780 . 
• 29 http://www.ncbi.nlm.nih.gov/htbin-post/Omim/ getmim . 
• 30 Robertson N G, Lu L, Heller S. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction.  Nature Genet . 1998;  20 299-303
• 31 Wayne S, Nahid G, Robertson N G. Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.  Human Molecular Genetics . 2001;  10 195-200
• 32 Lalwani A K, Goldstein J A, Kelley M J. Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9.  Am J Hum Genet . 2000;  67 1121-1128
• 33 http://www.faseb.org/genetics/ashg99/f1538.htm . 
• 34 http://www.uia.ac.be/dnalab/hhh/mito.html . 
• 35 Prezant T R, Agapian J V, Bohlman M C. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness.  Nat Genet . 1993;  4 289-294
• 36 Usami S, Abe S, Kasai M. Genetic and clinical features of sensorineural hearing loss associated with the 1555 mitochondrial mutation.  Laryngoscope . 1997;  107 483-490
• 37 Estivill X, Govea N, Barcelo E. Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides.  Am J Hum Genet . 1998;  62 27-35
• 38 Pikus A T. Pediatric audiologic profile in type 1 and type 2 neurofibromatosis.  J Am Acad Audiol . 1995;  6 54-62
• 39 Verhoeven K, Ensink R J, Tiranti V. Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer (UCN) gene.  Eur J Hum Genet . 1999;  7 45-51