PMID- 10602116
OWN - NLM
STAT- MEDLINE
DCOM- 20000229
LR  - 20181130
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 90
IP  - 1
DP  - 2000 Jan 3
TI  - Pendred syndrome: phenotypic variability in two families carrying the same PDS
      missense mutation.
PG  - 38-44
AB  - Pendred syndrome comprises congenital sensorineural hearing loss, thyroid goiter,
      and positive perchlorate discharge test. Recently, this autosomal recessive
      disorder was shown to be caused by mutations in the PDS gene, which encodes an
      anion transporter called pendrin. Molecular analysis of the PDS gene was
      performed in two consanguineous large families from Southern Tunisia comprising a
      total of 23 individuals affected with profound congenital deafness; the same
      missense mutation, L445W, was identified in all affected individuals. A widened
      vestibular aqueduct was found in all patients who underwent computed tomography
      (CT) scan exploration of the inner ear. In contrast, goiter was present in only
      11 affected individuals, who interestingly had a normal result of the perchlorate
      discharge test whenever performed. The present results question the sensitivity
      of the perchlorate test for the diagnosis of Pendred syndrome and support the use
      of a molecular analysis of the PDS gene in the assessment of individuals with
      severe to profound congenital hearing loss associated with inner ear
      morphological anomaly even in the absence of a thyroid goiter.
CI  - Copyright 2000 Wiley-Liss, Inc.
FAU - Masmoudi, S
AU  - Masmoudi S
AD  - Laboratoire d'Immunologie et de Biologie Moleculaire, Faculte de Medecine, Sfax, 
      Tunisia.
FAU - Charfedine, I
AU  - Charfedine I
FAU - Hmani, M
AU  - Hmani M
FAU - Grati, M
AU  - Grati M
FAU - Ghorbel, A M
AU  - Ghorbel AM
FAU - Elgaied-Boulila, A
AU  - Elgaied-Boulila A
FAU - Drira, M
AU  - Drira M
FAU - Hardelin, J P
AU  - Hardelin JP
FAU - Ayadi, H
AU  - Ayadi H
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (Carrier Proteins)
RN  - 0 (Membrane Transport Proteins)
RN  - 0 (SLC26A4 protein, human)
RN  - 0 (Sulfate Transporters)
RN  - 8DUH1N11BX (Tryptophan)
RN  - GMW67QNF9C (Leucine)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Amino Acid Substitution
MH  - Carrier Proteins/*genetics
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - Goiter/congenital/*genetics/physiopathology
MH  - Hearing Loss, Sensorineural/congenital/*genetics/physiopathology
MH  - Humans
MH  - Leucine/genetics
MH  - Male
MH  - *Membrane Transport Proteins
MH  - Middle Aged
MH  - *Mutation, Missense
MH  - Pedigree
MH  - Phenotype
MH  - Sulfate Transporters
MH  - Tryptophan/genetics
EDAT- 1999/12/22 09:00
MHDA- 2000/03/04 09:00
CRDT- 1999/12/22 09:00
PHST- 1999/12/22 09:00 [pubmed]
PHST- 2000/03/04 09:00 [medline]
PHST- 1999/12/22 09:00 [entrez]
AID - 10.1002/(SICI)1096-8628(20000103)90:1<38::AID-AJMG8>3.0.CO;2-R [pii]
PST - ppublish
SO  - Am J Med Genet. 2000 Jan 3;90(1):38-44.