A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans

Laryngoscope

Volumn 124, Issue 3, 2014, Pages E95-E103

  Morlet, Thierry ^a   Rabinowitz, Mindy R ^b   Looney, Liesl R ^a   Riegner, Tammy ^a   Greenwood, L Ashleigh ^a   Sherman, Eric A ^c   Achilly, Nathan ^d   Zhu, Anni ^d   Yoo, Estelle ^a   O'Reilly, Robert C ^a,b   Jinks, Robert N ^d   Puffenberger, Erik G ^d,f   Heaps, Adam ^f   Morton, Holmes ^d,e   Strauss, Kevin A ^d,e,f  

^a NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^b THOMAS JEFFERSON UNIVERSITY HOSPITAL   (United States)

^c SWARTHMORE COLLEGE   (United States)

^d MARSHALL UNIVERSITY   (United States)

^e LANCASTER GENERAL HOSPITAL   (United States)

^f CLINIC FOR SPECIAL CHILDREN   (United States)

Author keywords

Amish; Auditory neuropathy; SLITRK6

Indexed keywords

GLUTAMINE; PROTEIN; SLITRK6 PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ADULTHOOD; ALLELE; AUDITORY BRAINSTEM RESPONSE; BRAIN STEM RESPONSE; CHILD; CLINICAL ARTICLE; COCHLEA POTENTIAL; CONFERENCE PAPER; CONTROLLED STUDY; CRANIAL NEUROPATHY; DISEASE SEVERITY; DISTORTION PRODUCT OTOACOUSTIC EMISSION; FEMALE; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENETIC VARIABILITY; HEARING IMPAIRMENT; HEARING TEST; HIGH MYOPIA; HOMOZYGOSITY; HOMOZYGOTE; HUMAN; IN VITRO STUDY; INFANT; MALE; MICROARRAY ANALYSIS; MIDDLE EAR MUSCLE REFLEX; NONSENSE MUTATION; OBSERVATIONAL STUDY; PHENOTYPE; PRIORITY JOURNAL; PROSPECTIVE STUDY; PROTEIN EXPRESSION; RECESSIVE GENE; REFLEX; SINGLE NUCLEOTIDE POLYMORPHISM; SPEECH AUDIOMETRY; VESTIBULAR EVOKED MYOGENIC POTENTIAL; VESTIBULAR TEST; VESTIBULOCOCHLEAR NERVE DISEASE;

AMISH; AUDITORY NEUROPATHY; SLITRK6;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; DISEASE PROGRESSION; EVOKED POTENTIALS, AUDITORY, BRAIN STEM; FEMALE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEARING LOSS, CENTRAL; HEARING LOSS, SENSORINEURAL; HOMOZYGOTE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; OTOACOUSTIC EMISSIONS, SPONTANEOUS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; PROSPECTIVE STUDIES; RISK ASSESSMENT; YOUNG ADULT;

EID: 84894492788     PISSN: 0023852X     EISSN: 15314995     Source Type: Journal    
DOI: 10.1002/lary.24361     Document Type: Conference Paper

References (36)

1. Aruga J,. Slitrk6 expression profile in the mouse embryo and its relationship to that of Nlrr3. Gene Expr Patterns 2003; 3: 727-733.45.
2. Aruga J, Yokota N, Mikoshiba K,. Human SLITRK family genes: genomic organization and expression profiling in normal brain and brain tumor tissue. Gene 2003; 315: 87-94.
3. Takahashi H, Katayama K, Sohya K, et al. Selective control of inhibitory synapse development by Slitrk3-PTPdelta trans-synaptic interaction. Nat Neurosci 2012; 15: 389-398, S381-382.
4. Katayama K., Zine A., Ota M., et al. Disorganized innervation and neuronal loss in the inner ear of Slitrk6-deficient mice. PloS One 2009; 4: e7786.
5. Beaubien F, Cloutier JF,. Differential expression of Slitrk family members in the mouse nervous system. Dev Dyn 2009; 238: 3285-3296.
6. Matsumoto Y., Katayam K., Okamoto T., et al. Impaired auditory-vestibular functions and behavioral abnormalities of Slitrk6-deficient mice. PloS One 2011; 6: e16497.
7. Tekin M, Chioza BA, Matsumoto Y, et al. SLITRK6 mutations cause myopia and deafness in humans and mice. J Clin Invest 2013; 123: 2094-2102. doi: 10.1172/JCI65853. Epub 2013.
8. Strauss KA, Puffenberger EG, Huentelman MJ, et al. Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med 2006; 354: 1370-1377.
9. Puffenberger EG, Strauss KA, Ramsey KE, et al. Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5. Brain 2007; 130: 1929-1941.
10. Puffenberger EG, Jinks RN, Sougnez C, et al. Genetic mapping and exome sequencing identify variants associated with five novel diseases. PLoS One 2012; 7: e28936.
11. Broman KW, Weber JL,. Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humain. Am J Hum Genet 1999; 65: 1493-1500.
12. Rivolta MN, Grix N, Lawlor P, Ashmore JF, Jagger DJ, Holley MC,. Auditory hair cell precursors immortalized from the mammalian inner ear. Proc Biol Sci 1998; 265: 1595-1603.
13. Strauss KA, Puffenberger EG,. Genetics, medicine, and the plain people. Annu Rev Genomics Hum Genet 2009; 10: 513-536.
14. Aruga J, Mikoshiba K,. Identification and characterization of Slitrk, a novel neuronal transmembrane protein family controlling neurite outgrowth. Mol Cell Neurosci 2003; 24: 117-129.
15. Starr A, Picton TW, Sininger Y, Hood LJ, Berlin CI,. Auditory neuropathy. Brain 1996; 119: 741-753.
16. Berlin CI, Bordelon J., St John P., Wilensky D., Hurley A., Kluka E., Hood LJ., Reversing click polarity may uncover auditory neuropathy in infants. Ear Hear 1998; 19: 37-47.
17. Berlin CI, Morlet T, Hood LJ,. Auditory neuropathy/dyssynchrony: its diagnosis and management. Pediatr Clin North Am 2003; 50: 331-340, vii-viii.
18. Berlin C.I., Hood L.J., Morlet T., et al. Absent or elevated middle ear muscle reflexes in the presence of normal otoacoustic emissions: a universal finding in 136 cases of auditory neuropathy-dys-synchrony. J Am Acad Audiol 2005; 16: 546-553.
19. Hood L, Morlet T., Current issues in auditory neuropathy spectrum Disorder. In Translational perspectives in auditory neurosciences. Special topics., Tremblay K, Burkard R,. (eds). San Diego, CA: Plural Publishing, 2012; 35-68.
20. Deltenre P, Mansbach AL, Bozet C, et al. Auditory neuropathy with preserved cochlear microphonics and secondary loss of otoacoustic emissions. Audiology 1999; 38, 187-195.
21. Kovach MJ, Campbell KCM, Herman K, et al. Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness: delineation of the clinical features and review of the literature. Am J Med Genet 2002; 108: 295-303.
22. Starr A, Sininger YS, Pratt H,. The varieties of auditory neuropathy. J Basic Clin Physiol Pharmacol 2000; 11: 215-230.
23. Starr A, Sininger Y, Nguyen T, Michalewski HJ, Oba S, Abdala C,. Cochlear receptor (microphonic and summating potentials, otoacoustic emissions) and auditory pathway (auditory brain stem potentials) activity in auditory neuropathy. Ear Hear 2001; 22: 91-99.
24. Berlin, C. I., Hood, L. J., Morlet, T., Wilensky, D., Li, L., Rose-Mattingly, K., Frisch, S. A., (2010). Multi-site diagnosis and management of 260 patients with Auditory Neuropathy/Dys-synchrony (Auditory Neuropathy Spectrum Disorder). International Journal of Audiology, 49, 30-43.
25. Tekin M, Diaz-Horta O, Duman D, et al. Whole-exome sequencing for autosomal recessive non-syndromic deafness: 93% of known genes covered and OTOGL and SLITRK6 are novel genes. http://www.ashg.org/2012meeting/ abstracts/fulltext/f120122160.htm.
26. Deltenre P, Mansbach AL, Bozet C, Clercx A, Hecox KE,. Temporal distortion products (kernel slices) evoked by maximum-length-sequences in auditory neuropathy; evidence for a cochlear pre-synaptic origin. Electroencephalogr Clin Neurophysiol 1997; 104: 10-16.
27. Starr A, McPherson J, Patterson J, et al. Absence of both auditory evoked potentials and auditory percepts dependent on timing cues. Brain 1991; 114: 1157-1180.
28. Dallos P, Cheatham MA,. Production of cochlear potentials by inner and outer hair cells. J Acoust Soc Am 1976; 60: 510-512.
29. Dallos P,. Some electrical circuit properties of the organ of Corti. I. Analysis without reactive elements. Hear Res 1983; 12: 89-120.
30. Withnell RH,. Brief report: the cochlear microphonic as an indication of outer hair cell function. Ear Hear 2001; 22: 75-77.
31. Aran JM, Charlet de Sauvage R., Clinical value of cochlear microphonic recordings. In:, Ruben RJ, Elberling C, Salomon G, eds. Electrocochleography. Baltimore, MD: University Park Press. 1976; 55-65.
32. Charlet de Sauvage R, Aran JM,. [The normal electrocochleogram]. Rev Laryngol Otol Rhinol (Bord) 1973; 94: 93-107.
33. Schoonhoven R, Lamore PJJ, De Laat JAPM, Grote JJ,. The prognostic value of electrocochleography in severely hearing-impared infants. Audiology 1999; 38: 141-154.
34. Hood LJ, Berlin, CI, Bordelon, J, Rose, K,. Patients with auditory neuropathy/dys-synchrony lack efferent suppression of transient evoked otoacoustic emissions. J Am Acad Audiol 2003; 14: 302-313.
35. Santarelli R, Scimemi P, Dal Monte E, Arslan E,. Cochlear microphonic potential recorded by transtympanic electrocochleography in normally-hearing and hearing-impaired ears. Acta Otorhinolaryngol Ital 2006; 26: 78-95.
36. Breneman AI, Gifford RH, Dejong MD,. Cochlear implantation in children with auditory neuropathy spectrum disorder: long-term outcomes. J Am Acad Audiol 2012; 23: 5-17.