From gene to disease; nonsyndromic, autosomal dominant, low-frequency sensorineural hearing loss (DFNA6/14);Van gen naar ziekte; niet-syndromaal, autosomaal dominant overervend, laagfrequent, perceptief gehoorverlies (DFNA6/14)

Nederlands Tijdschrift voor Geneeskunde

Volumn 147, Issue 44, 2003, Pages 2170-2172

  Pennings, R J E ^a   Cryns, K ^a   Huygen, P L M ^a   Van Camp, G ^a   Cremers, C W R J ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA;

AUTOSOMAL DOMINANT DISORDER; GENE LOCUS; GENE MUTATION; HEARING LOSS; HUMAN; PERCEPTION DEAFNESS; REVIEW; WOLFRAM SYNDROME;

AUDIOMETRY; DISEASE PROGRESSION; HEARING LOSS, SENSORINEURAL; HUMANS; MEMBRANE PROTEINS; MULTIGENE FAMILY; MUTATION; PEDIGREE;

EID: 0242299255     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (13)

1. Lesperance MM, Hall 3rd JW, Bess FH, Fukushima K, Jain PK, Ploplis B, et al. A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3. Hum Mol Genet 1995;4:1967-72.
2. Camp G van, Kunst HPM, Flothmann K, McGuirt W, Wauters J, Marres H, et al. A gene for autosomal dominant hearing impairment (DFNA 14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus. J Med Genet 1999;36:532-6.
3. Bespalova IN, Camp G van, Bom SJH, Brown DJ, Cryns K, DeWan AT, et al. Mutations in the Wolfram syndrome 1 gene (WFS1) area a common cause of low frequency sensorineural hearing loss. Hum Mol Genet 2001;10:2501-8.
4. Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, et al. Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1. Hum Mol Genet 2001;10:2509-14.
5. Kunst HPM, Marres HAM, Huygen PLM, Camp G van, Joosten F, Cremers CWRJ. Autosomal dominant non-syndromal low-frequency sensorineural hearing impairment linked to chromosome 4p16 (DFNA14): statistical analysis of hearing threshold in relation to age and evaluation of vestibulo-ocular functions. Audiology 1999;38: 165-73.
6. Pennings RJE, Bom SJH, Cryns K, Flothmann K, Huygen PLM, Kremer H, et al. Progression of low-frequency sensorineurel hearing loss (DFNA6/14-WFS1). Arch Otolaryngol Head Neck Surg 2003; 129:421-6.
7. Pennings RJE, Dikkeschei LD, Cremers CWRJ, Ouweland JMW van den. Van gen naar ziekte; mutaties in het WFS1-gen als oorzaak van juveniele type-1-diabetes mellitus met opticusatrofie (Wolfram syndroom). Ned Tijdschr Geneeskd 2002;146:985-7.
8. Cryns K, Sivakumaran TA, Ouweland JMW van den, Pennings RJE, Cremers CWRJ, Flothmann K, et al. Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus and psychiatric disease. Hum Mutat 2003; 22:275-87.
9. Cryns K, Pfister M, Pennings RJE, Bom SJ, Flothmann K, Caethoven G, et al. Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations. Hum Genet 2002;110:389-94.
10. Sivakumaran TA, Lesperance MM. A PCR-RFLP assay for the A716T mutation in the WFS1 gene, a common cause of low-frequency sensorineural hearing loss. Genet Test 2002;6:229-31.
11. Takeda K, Inoue H, Tanizawa Y, Matsuzaki Y, Oba J, Watanabe Y, et al. WFS1 (Wolfram syndrome 1) gene product: predominant sub-cellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum Mol Genet 2001;10:477-84.
12. Cryns K, Thys S, Laer L van, Oka Y, Pfister M, Nassauw L van, et al. The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells. Histochem Cell Biol 2003;119:247-56.
13. Lynch ED, Lee MK, Morrow JE, Welcsh PL, Leon PE, King MC. Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. Science 1997; 278:1315-8.