The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients

Mi Ae Cho, Su Jin Jeong, Sang Mi Eom, Hyun Yung Park, Young Joo Lee, Se Eun Park, So Young Park, Yumie Rhee, Eun Soek Kang, Chul Woo Ahn, Bong Soo Cha, Eun Jig Lee, Kyung Rae Kim, Hyun Chul Lee, Sung Kil Lim

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Abstract

Inherited as an autosomal recessive trait, Pendred syndrome is a disease that shows congenital sensorineural hearing loss and goiter, with a positive finding in the perchlorate discharge test. Pendred syndrome results from various mutations in the PDS/SLC26A4 gene that cause production of an abnormal pendrin protein. More than 90 mutations in the PDS/SLC26A4 gene have been reported throughout the world. A recent study of 26 Korean patients with a relatively high frequency (65%) of a mutated PDS/SLC26A4 gene exhibited nonsyndromic deafness and an enlarged vestibular aqueduct. We report two patients with characteristics of typical Pendred syndrome, a 26-yr-old female and a 61-yr-old male, who were both homozygous for a previously reported missense mutation, H723R (Histidine 723Arginine) in the PDS/SLC26A4 gene.

Original languageEnglish
Pages (from-to)237-243
Number of pages7
JournalEndocrine
Volume30
Issue number2
DOIs
Publication statusPublished - 2006 Oct

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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    Cho, M. A., Jeong, S. J., Eom, S. M., Park, H. Y., Lee, Y. J., Park, S. E., Park, S. Y., Rhee, Y., Kang, E. S., Ahn, C. W., Cha, B. S., Lee, E. J., Kim, K. R., Lee, H. C., & Lim, S. K. (2006). The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients. Endocrine, 30(2), 237-243. https://doi.org/10.1385/ENDO:30:2:237