Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

Human Mutation

Volumn 17, Issue 5, 2001, Pages 403-411

  Campbell, Colleen ^a,b,d   Cucci, Robert A ^a   Prasad, Sai ^a,b   Green, Glenn E ^a,b,c   Bradley Edeal, J ^a,b   Galer, Chad E ^a,b   Karniski, Lawrence P ^a,d   Sheffield, Val C ^a,b   Smith, Richard J H ^a,d  

^a UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^b UNIVERSITY OF ARIZONA   (United States)

^c Medical Center   (United States)

^d UNIVERSITY OF IOWA HEALTH CARE   (United States)

Author keywords

ARNSHL; Deafness; DFNB4; Genotype phenotype; Goiter; Nonsensory autosomal recessive; PDS; Pendred syndrome

Indexed keywords

ALLELE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; GENE MUTATION; GENOTYPE; HEARING LOSS; HUMAN; MAJOR CLINICAL STUDY; PENDRED SYNDROME; PHENOTYPE; PRIORITY JOURNAL; TEMPORAL BONE; THYROID DISEASE; VESTIBULE AQUEDUCT;

ABNORMALITIES, MULTIPLE; ALLELES; BLOTTING, SOUTHERN; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; DEAFNESS; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY; GENES, RECESSIVE; GENETIC SCREENING; GENOTYPE; HUMANS; INFANT; MEMBRANE TRANSPORT PROTEINS; MUTATION; MUTATION, MISSENSE; PHENOTYPE; SYNDROME; TEMPORAL BONE; VESTIBULAR AQUEDUCT;

EID: 0035034863     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.1116     Document Type: Article

References (28)

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2. A novel mutation in the pendrin gene associated with Pendred's syndrome
3. Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre)
4. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
5. Expression pattern of the mouse ortholog of the Pendred syndrome gene (Pds) suggests a key role for pendrin in the inner ear
6. Molecular analysis of the Pendred's syndrome gene and magnetic resonance imaging studies of the inner ear are essential for the diagnosis of true Pendred's syndrome
7. Genetic hearing loss associated with endocrine and metabolic disorders
8. Carrier rates in the Midwestern United States for GJB2 mutations causing inherited deafness
9. Pendred's syndrome
10. Phenocopies for deafness and goiter development ina large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene
11. A mutation in PDS causes non-syndromic recessive deafness
12. Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
13. Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome
14. Pendred syndrome: Phenotypic variability in two families carrying the same PDS missense mutation
15. Association of congenital deafness with goitre. The nature of the thyroid defect
16. Radiological malformations of the ear in Pendred syndrome
17. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
18. Pendred syndrome - 100 years of underascertainment?
19. Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome
20. Pendrin, the protein encoded by the Pendred syndrome gene (PDS), is an apical porter of iodide in the thyroid and is regulated by thyroglobulin in FRTL-5 cells
21. The Pendred syndrome gene encodes a chloride-iodide transport protein
22. Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange
23. Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and nonsyndromic hearing loss
24. Exclusion of Usher's syndrome gene from much of chromosome 4
25. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations
26. Two frequent missense mutations in Pendred syndrome
27. Defective myosin VIIA gene responsible for Usher syndrome type 1B
28. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene