Identification of a novel mutation in the SLC26A4 gene in an Italian with fluctuating sensorineural hearing loss
| Autor: | Francesco Di Paola, Leopoldo Zelante, Emanuele Bellacchio, Elona Cama, Ingrid Inches, Teresa Palladino, Salvatore Melchionda, Maria Stella Alemanno, Rosamaria Santarelli, Massimo Carella, Edoardo Arslan |
|---|---|
| Rok vydání: | 2009 |
| Předmět: |
Autosomal recessive hearing loss
Enlarged vestibular aqueduct Novel mutation SLC26A4 Pendred syndrome medicine.medical_specialty Novel mutation Adolescent Pendred syndrome Hearing Loss Sensorineural Compound heterozygosity Severity of Illness Index Exon Internal medicine SLC26A4 otorhinolaryngologic diseases medicine Humans Autosomal recessive hearing loss biology business.industry Thyroid Membrane Transport Proteins General Medicine Pendrin Organification medicine.disease Magnetic Resonance Imaging Endocrinology medicine.anatomical_structure Italy Otorhinolaryngology Sulfate Transporters Mutation Pediatrics Perinatology and Child Health biology.protein Enlarged vestibular aqueduct Female Sensorineural hearing loss Tomography X-Ray Computed business Follow-Up Studies Goiter Nodular |
| Zdroj: | International Journal of Pediatric Otorhinolaryngology. 73:1458-1463 |
| ISSN: | 0165-5876 |
| DOI: | 10.1016/j.ijporl.2009.06.003 |
| Popis: | Pendred syndrome is an autosomal recessive disorder characterized by congenital sensorineural deafness, goitre and defective iodide organification. Congenital and profound hearing loss is the hallmark of the syndrome, while goitre and thyroid dysfunction are highly variable even within the same family. Clinical features are due to altered formation of pendrin, a chloride/iodide transporter protein expressed in the inner ear, thyroid gland and kidney. A novel substitution was found in exon 7 of the pendrin encoding gene (SLC26A4) that leads to a stop codon, S314X. The new variation was found in compound heterozygosity with L445W mutation in a hearing impaired patient with bilateral Mondini's dysplasia and goitre. |
| Databáze: | OpenAIRE |
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