Clinical and molecular analysis of three Mexican families with Pendred's syndrome

European Journal of Endocrinology

Volumn 144, Issue 6, 2001, Pages 585-593

  Gonzalez Trevino, O ^a   Karamanoglu Arseven, O ^a   Ceballos, C J ^a   Vives, V I ^a   Ramirez, R C ^a   Gomez, V V ^a   Medeiros Neto, G ^a   Kopp, P ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CARRIER PROTEIN; CHLORIDE; IODIDE; LEVOTHYROXINE; LIOTHYRONINE; MICROSATELLITE DNA; PENDRIN PROTEIN; PERCHLORATE; PHENYLALANINE; PROLINE; UNCLASSIFIED DRUG; VALINE;

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUDIOMETRY; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CLINICAL STUDY; COMPUTER ASSISTED TOMOGRAPHY; DNA FLANKING REGION; ETHNIC GROUP; EUTHYROIDISM; EXON; FAMILY; FEMALE; GENE DELETION; GENE EXPRESSION; GENE INSERTION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC HETEROGENEITY; GOITER; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPOTHYROIDISM; INFANT; INNER EAR; INNER EAR DISEASE; KIDNEY; MALE; MARKER GENE; MOLECULAR GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEIC ACID BASE SUBSTITUTION; PENDRED SYNDROME; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STOP CODON; THYROID FUNCTION TEST; THYROID GLAND; THYROID SCINTISCANNING; VESTIBULE AQUEDUCT;

EID: 0034994001     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.0.1440585     Document Type: Article

References (33)

1. Deaf-mutism and goitre
2. The syndrome of sporadic goitre and congenital deafness
3. Pendred's syndrome: Association of congenital deafness with sporadic goiter
4. Pendred's syndrome and genetic defects in thyroid hormone synthesis
5. Pendred syndrome: 100 years of underascertainment
6. Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome
7. The inner ear in Pendred's syndrome
8. Opuscula Caroli Mundini: Anatomica Surdi Nati Sectio De Bononiensi Scientarium et Artium Instituto atque Academia Commentarii
9. The anatomical section of a boy born deaf (Mondini translation)
10. Radiological malformations of the ear in Pendred syndrome
11. 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
12. Non-endemic goitre and deafness
13. Association of congenital deafness with goitre (Pendred's syndrome)
14. Thyroid peroxidase: Evidence for disease gene exclusion in Pendred's syndrome
15. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
16. Expression pattern of the mouse orthology of the Pendred's syndrome gene (Pds) suggests a key role for pendrin in the inner ear
17. The Pendred syndrome gene encodes a chloride-iodide transport protein
18. 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
19. A family of mammalian anion transporters and their involvement in human genetic diseases
20. A mutation in PDS causes non-syndromic deafness
21. Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations
22. Definitions of endemic goiter and cretinism, classification of goiter size and severity of endemias, and survey techniques
23. Thyroid function in patients with Pendred's syndrome
24. Concurrence of Pendred syndrome, auto-immune thyroiditis, and simple goiter in one family
25. Recommendations for a nomenclature system for human gene mutations
26. Molecular analysis of the PDS gene in Pendred syndrome (sensorineural hearing loss and goitre)
27. Two frequent missense mutations in Pendred syndrome
28. Phenocopies for deafness and goiter development in a large inbred kindred with Pendred's syndrome associated with a novel mutation in the PDS gene
29. Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in Pendred syndrome
30. Pendred syndrome: Phenotypic variability in two families carrying the same PDS missense mutation
31. A novel mutation in the pendrin gene associated with Pendred's syndrome
32. Pendred's syndrome: Clinical characteristics and molecular basis
33. Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4)