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

doi:10.1385/ENDO:30:2:237

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

Department of Internal Medicine

Research output: Contribution to journal › Article › peer-review

5 Citations (Scopus)

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 language	English
Pages (from-to)	237-243
Number of pages	7
Journal	Endocrine
Volume	30
Issue number	2
DOIs	https://doi.org/10.1385/ENDO:30:2:237
Publication status	Published - 2006 Oct

All Science Journal Classification (ASJC) codes

Endocrinology, Diabetes and Metabolism
Endocrinology

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10.1385/ENDO:30:2:237

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@article{93ac08237f424aa1aacbee0843a9f975,

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

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.",

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

year = "2006",

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doi = "10.1385/ENDO:30:2:237",

language = "English",

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pages = "237--243",

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T1 - The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients

AU - Cho, Mi Ae

AU - Jeong, Su Jin

AU - Eom, Sang Mi

AU - Park, Hyun Yung

AU - Lee, Young Joo

AU - Park, Se Eun

AU - Park, So Young

AU - Rhee, Yumie

AU - Kang, Eun Soek

AU - Ahn, Chul Woo

AU - Cha, Bong Soo

AU - Lee, Eun Jig

AU - Kim, Kyung Rae

AU - Lee, Hyun Chul

AU - Lim, Sung Kil

PY - 2006/10

Y1 - 2006/10

N2 - 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.

AB - 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.

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JO - Endocrine

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

Abstract

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