Abstract
Enlarged vestibular aqueduct (EVA), known as the most common form of inner ear abnormality, has recently been of particular genetic interest because this anomaly is inherited in a recessive manner. The locus for non-syndromic sensorineural hearing loss with EVA has been mapped to the same chromosomal region, 7q31, as the Pendred syndrome locus. In the present study, seven mutations in the PDS gene (PDS), the gene responsible for Pendred syndrome, have been found in families of non-syndromic sensorineural hearing loss with EVA. One family is homozygous, three families are compound heterozygotes, and two families are heterozygous but with no other mutation detected. The present results provide evidence that mutations in PDS cause both syndromic and non-syndromic hearing loss.
| Original language | English |
|---|---|
| Pages (from-to) | 188-192 |
| Number of pages | 5 |
| Journal | Human Genetics |
| Volume | 104 |
| Issue number | 2 |
| DOIs | |
| State | Published - 1999 |
Fingerprint
All Science Journal Classification (ASJC) codes
- Genetics(clinical)
- Genetics
Cite this
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations. / Usami, Shin Ichi; Abe, Satoko; Weston, Michael; Shinkawa, Hideichi; Van Camp, Guy; Kimberling, William J.
In: Human Genetics, Vol. 104, No. 2, 1999, p. 188-192.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations
AU - Usami, Shin Ichi
AU - Abe, Satoko
AU - Weston, Michael
AU - Shinkawa, Hideichi
AU - Van Camp, Guy
AU - Kimberling, William J.
PY - 1999
Y1 - 1999
N2 - Enlarged vestibular aqueduct (EVA), known as the most common form of inner ear abnormality, has recently been of particular genetic interest because this anomaly is inherited in a recessive manner. The locus for non-syndromic sensorineural hearing loss with EVA has been mapped to the same chromosomal region, 7q31, as the Pendred syndrome locus. In the present study, seven mutations in the PDS gene (PDS), the gene responsible for Pendred syndrome, have been found in families of non-syndromic sensorineural hearing loss with EVA. One family is homozygous, three families are compound heterozygotes, and two families are heterozygous but with no other mutation detected. The present results provide evidence that mutations in PDS cause both syndromic and non-syndromic hearing loss.
AB - Enlarged vestibular aqueduct (EVA), known as the most common form of inner ear abnormality, has recently been of particular genetic interest because this anomaly is inherited in a recessive manner. The locus for non-syndromic sensorineural hearing loss with EVA has been mapped to the same chromosomal region, 7q31, as the Pendred syndrome locus. In the present study, seven mutations in the PDS gene (PDS), the gene responsible for Pendred syndrome, have been found in families of non-syndromic sensorineural hearing loss with EVA. One family is homozygous, three families are compound heterozygotes, and two families are heterozygous but with no other mutation detected. The present results provide evidence that mutations in PDS cause both syndromic and non-syndromic hearing loss.
UR - http://www.scopus.com/inward/record.url?scp=0033015606&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0033015606&partnerID=8YFLogxK
U2 - 10.1007/s004390050933
DO - 10.1007/s004390050933
M3 - Article
C2 - 10190331
AN - SCOPUS:0033015606
VL - 104
SP - 188
EP - 192
JO - Human Genetics
JF - Human Genetics
SN - 0340-6717
IS - 2
ER -