PMID- 10190331
OWN - NLM
STAT- MEDLINE
DCOM- 19990420
LR  - 20181201
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 104
IP  - 2
DP  - 1999 Feb
TI  - Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused
      by PDS mutations.
PG  - 188-92
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.
FAU - Usami, S
AU  - Usami S
AD  - Department of Otorhinolaryngology, Hirosaki University School of Medicine, Japan.
      usami@cc.hirosaki-u.ac.jp
FAU - Abe, S
AU  - Abe S
FAU - Weston, M D
AU  - Weston MD
FAU - Shinkawa, H
AU  - Shinkawa H
FAU - Van Camp, G
AU  - Van Camp G
FAU - Kimberling, W J
AU  - Kimberling WJ
LA  - eng
GR  - P01 DC01813/DC/NIDCD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Carrier Proteins)
RN  - 0 (Membrane Transport Proteins)
RN  - 0 (SLC26A4 protein, human)
RN  - 0 (Sulfate Transporters)
SB  - IM
MH  - Carrier Proteins/*genetics
MH  - Female
MH  - Frameshift Mutation
MH  - Genes, Recessive
MH  - Hearing Loss, Sensorineural/*genetics
MH  - Humans
MH  - Male
MH  - *Membrane Transport Proteins
MH  - Mutation, Missense
MH  - Pedigree
MH  - Sulfate Transporters
MH  - Syndrome
MH  - Vestibular Aqueduct
EDAT- 1999/04/06 00:00
MHDA- 1999/04/06 00:01
CRDT- 1999/04/06 00:00
PHST- 1999/04/06 00:00 [pubmed]
PHST- 1999/04/06 00:01 [medline]
PHST- 1999/04/06 00:00 [entrez]
PST - ppublish
SO  - Hum Genet. 1999 Feb;104(2):188-92.