Molecular Analysis of the PDS Gene in a Nonconsanguineous Sicilian Family with Pendred's Syndrome

Thyroid ◽  
2005 ◽  
Vol 15 (7) ◽  
pp. 734-741 ◽  
Author(s):  
M.P. Gillam ◽  
L. Bartolone ◽  
P. Kopp ◽  
S. Benvenga
Keyword(s):  
Molecular Analysis ◽  
Pendred’S Syndrome ◽  
Pds Gene

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

2001 ◽  
pp. 585-593 ◽  
Author(s):  
O Gonzalez Trevino ◽  
O Karamanoglu Arseven ◽  
CJ Ceballos ◽  
VI Vives ◽  
RC Ramirez ◽  
...  
Keyword(s):  
Sequence Analysis ◽  
Molecular Analysis ◽  
Sensorineural Deafness ◽  
Index Patient ◽  
Insertion Mutation ◽  
Thyroid Function Tests ◽  
Mexican Families ◽  
Pendred’S Syndrome ◽  
Exon 4 ◽  
Pds Gene

BACKGROUND: The autosomal recessive Pendred's syndrome is defined by congenital sensorineural deafness, goiter, and impaired iodide organification. It is caused by mutations in the Pendred's syndrome (PDS) gene that encodes pendrin, a chloride/iodide transporter expressed in the thyroid, the inner ear, and the kidney. OBJECTIVE: To perform a detailed clinical and molecular analysis of patients with Pendred's syndrome from four patients from three unrelated Mexican families. METHODS: Thyroid function tests, perchlorate test, thyroid scintigraphy, audiometry, computer tomography and magnetic resonance imaging were performed in all affected individuals. Haplotype analyses were performed using microsatellite markers flanking the PDS locus, and the PDS gene was submitted to direct sequence analysis. RESULTS: All patients presented with sensorineural deafness, Mondini malformations of the cochlea, an enlarged vestibular aqueduct, goiter, and a positive perchlorate test. Two patients were hypothyroid, two individuals were euthyroid. Sequence analysis revealed a complex homozygous deletion/insertion mutation at the end of exon 4 in the index patient of family 1 resulting in a premature stop codon at position 138. In family 2, the affected individuals were compound heterozygous for a splice acceptor mutation (IVS2 -1G>A) and a 1231G>C transversion substituting alanine 411 by proline (A411P). In family 3, the index patient was found to be homozygous for a transversion 412G>T in exon 4 replacing valine 138 by phenylalanine (V138F). CONCLUSIONS: All patients included in this study presented with the classic Pendred syndrome triad and molecular analysis revealed pendrin mutations as the underlying cause. The identification of three novel mutations, one of them of complex structure, expands the spectrum of mutations in the PDS gene and emphasizes that they display marked allelic heterogeneity.

scholarly journals Mutations in the PDS Gene in German Families with Pendred’s Syndrome: V138F Is a Founder Mutation

2003 ◽  
Vol 88 (6) ◽  
pp. 2916-2921 ◽  
Author(s):  
Guntram Borck ◽  
Christian Roth ◽  
Ursula Martiné ◽  
Gabriele Wildhardt ◽  
Joachim Pohlenz
Keyword(s):  
Founder Mutation ◽  
Pendred’S Syndrome ◽  
Pds Gene

scholarly journals Molecular Analysis of the Pds Gene in Pendred Syndrome (Sensorineural Hearing Loss and Goitre)

1998 ◽  
Vol 7 (7) ◽  
pp. 1105-1112 ◽  
Author(s):  
B. Coyle ◽  
W. Reardon ◽  
J.-A. Herbrick ◽  
L.-C. Tsui ◽  
E. Gausden ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Sensorineural Hearing Loss ◽  
Molecular Analysis ◽  
Sensorineural Hearing ◽  
Pendred Syndrome ◽  
Pds Gene

Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity

2004 ◽  
Vol 66 (4) ◽  
pp. 333-340 ◽  
Author(s):  
H Blons ◽  
D Feldmann ◽  
V Duval ◽  
O Messaz ◽  
F Denoyelle ◽  
...  
Keyword(s):  
Phenotypic Heterogeneity ◽  
Pendred’S Syndrome ◽  
Pds Gene

scholarly journals Two Chinese Families with Pendred’s Syndrome—Radiological Imaging of the Ear and Molecular Analysis of the Pendrin Gene

2001 ◽  
Vol 86 (8) ◽  
pp. 3907-3911 ◽  
Author(s):  
Alice M. L. Yong ◽  
Sui Sin Goh ◽  
Yi Zhao ◽  
Peter H. K. Eng ◽  
Leonard K. H. Koh ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Radiological Imaging ◽  
Chinese Families ◽  
Pendred’S Syndrome

Molecular analysis of neurotransmitter release

1998 ◽  
Vol 33 ◽  
pp. 29-41 ◽  
Author(s):  
Giampietro Schiavo ◽  
Gudrun Stenbeck
Keyword(s):  
Molecular Analysis ◽  
Neurotransmitter Release
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