Novel splice-site mutation c.1615-2A>G (IVS14-2A>G) in the SLC26A4 gene causing Pendred syndrome in a consanguineous Portuguese family

Am J Med Genet A. 2011 Apr;155A(4):924-7. doi: 10.1002/ajmg.a.33740. Epub 2011 Mar 17.

Authors

Helena Simões-Teixeira¹, Tiago D Matos, Marta Canas Marques, Oscar Dias, Mário Andrea, Eduardo Barreiros, Luís Barreiros, Felipe Moreno, Graça Fialho, Helena Caria, Ignacio Del Castillo

Affiliation

¹ Faculty of Science, Centre for Biodiversity, Functional and Integrative Genomics (BioFIG), University of Lisbon, Lisbon, Portugal.

PMID: 21416585
DOI: 10.1002/ajmg.a.33740

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Child
Consanguinity*
Goiter, Nodular / diagnostic imaging
Goiter, Nodular / genetics
Goiter, Nodular / pathology
Hearing Loss, Sensorineural / diagnostic imaging
Hearing Loss, Sensorineural / genetics
Hearing Loss, Sensorineural / pathology
Humans
Male
Membrane Transport Proteins / genetics*
Mutation / genetics*
Pedigree
Portugal
RNA Splice Sites / genetics*
Radiography
Sulfate Transporters
Vestibular Aqueduct / diagnostic imaging
Vestibular Aqueduct / pathology
Young Adult

Substances

Membrane Transport Proteins
RNA Splice Sites
SLC26A4 protein, human
Sulfate Transporters

Supplementary concepts

Pendred syndrome