Defective SLC26A4 causes Pendred syndrome (PDS)

Stable Identifier
R-HSA-5619046
Type
Pathway
Species
Homo sapiens
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Solute carrier (SLC) genes that code chloride (Cl-)/bicarbonate (HCO3-) exchanger proteins are in the SLC4 and SLC26 families. SLC26A4 (pendrin) is thought to act as a chloride/anion exchanger but in the thyroid and inner ear, it also contributes to the conditioning of the endolymphatic fluid by mediating iodide (I-) transport. Defects in SLC26A4 can cause Pendred syndrome (PDS; MIM:274600), an autosomal recessive disorder characterised by congenital sensorineural hearing loss in association with thyroid goiter (Choi et al. 2011, Pesce & Kopp 2014).

Literature References
PubMed ID Title Journal Year
25009573 Iodide transport: implications for health and disease

Pesce, L, Kopp, P

Int J Pediatr Endocrinol 2014
21358184 Hereditary hearing loss with thyroid abnormalities

Choi, BY, Muskett, J, King, KA, Zalewski, CK, Shawker, T, Reynolds, JC, Butman, JA, Brewer, CC, Stewart, AK, Alper, SL, Griffith, AJ

Adv. Otorhinolaryngol. 2011
Participants
Participant Of
Disease
Name Identifier Synonyms
sensorineural hearing loss 10003 Perceptive hearing loss, Perceptive deafness [diagnos], Perceptive hearing loss or deafness, high-frequency hearing loss, central hearing loss, sensorineural hearing loss, Sensorineural Deafness, High frequency deafness, Sensory hearing loss, High Frequency Hearing Loss
goiter 12176
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