Characteristics of South Korean patients with hereditary transthyretin amyloidosis

Kyomin Choi, Jin Myoung Seok, Byoung Joon Kim, Young Cheol Choi, Ha Young Shin, Il Nam Sunwoo, Dae Seong Kim, Jung Joon Sung, Ga Yeon Lee, Eun Seok Jeon, Nam Hee Kim, Ju Hong Min, Jeeyoung Oh

Research output: Contribution to journalArticle

Abstract

Background and Purpose This retrospective cross-sectional study included 18 patients from unrelated families harboring mutations of the transthyretin gene (TTR), and analyzed their characteristics and geographical distribution in South Korea. Methods The included patients had a diagnosis of systemic amyloidosis, clinical symptoms, such as amyloid neuropathy or cardiomyopathy, and confirmation of a TTR gene mutation using genetic analysis recorded between April 1995 and November 2014. Results The mean age at disease onset was 49.6 years, and the mean disease duration from symptom onset to diagnosis was 3.67 years. Fifteen of the 18 patients were classified as mixed phenotype, 2 as the neurological phenotype, and only 1 patient as the cardiac phenotype. The most-common mutation pattern in South Korea was Asp38Ala, which was detected in eight patients. Thirteen patients reported their family hometowns, and five of the eight harboring the Asp38Ala mutation were from the Gyeongsang province in southeast Korea. The other eight patients exhibited a widespread geographical distribution. A particularly noteworthy finding was that the valine at position 30 (Val30Met) mutation, which was previously reported as the most-common TTR mutation worldwide and also the most common in the Japanese population, was not detected in the present South Korean patients. Conclusions South Korean patients with hereditary TTR amyloidosis exhibited heterogeneous TTR genotypes and clinical phenotypes. The findings of this study suggest that the distribution of TTR amyloidosis in South Korea is due to de novo mutations and/or related to the other countries in East Asia.

Original languageEnglish
Pages (from-to)537-541
Number of pages5
JournalJournal of Clinical Neurology (Korea)
Volume14
Issue number4
DOIs
Publication statusPublished - 2018 Oct

Fingerprint

Familial Amyloidosis
Prealbumin
Mutation
Republic of Korea
Genes
Phenotype
Amyloid Neuropathies
Amyloidosis, Hereditary, Transthyretin-Related
Far East
Valine
Amyloidosis
Korea
Cardiomyopathies
Age of Onset
Cross-Sectional Studies
Genotype

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Cite this

Choi, Kyomin ; Seok, Jin Myoung ; Kim, Byoung Joon ; Choi, Young Cheol ; Shin, Ha Young ; Sunwoo, Il Nam ; Kim, Dae Seong ; Sung, Jung Joon ; Lee, Ga Yeon ; Jeon, Eun Seok ; Kim, Nam Hee ; Min, Ju Hong ; Oh, Jeeyoung. / Characteristics of South Korean patients with hereditary transthyretin amyloidosis. In: Journal of Clinical Neurology (Korea). 2018 ; Vol. 14, No. 4. pp. 537-541.
@article{4c6dc178381740ef9d77d34ec244f0e0,
title = "Characteristics of South Korean patients with hereditary transthyretin amyloidosis",
abstract = "Background and Purpose This retrospective cross-sectional study included 18 patients from unrelated families harboring mutations of the transthyretin gene (TTR), and analyzed their characteristics and geographical distribution in South Korea. Methods The included patients had a diagnosis of systemic amyloidosis, clinical symptoms, such as amyloid neuropathy or cardiomyopathy, and confirmation of a TTR gene mutation using genetic analysis recorded between April 1995 and November 2014. Results The mean age at disease onset was 49.6 years, and the mean disease duration from symptom onset to diagnosis was 3.67 years. Fifteen of the 18 patients were classified as mixed phenotype, 2 as the neurological phenotype, and only 1 patient as the cardiac phenotype. The most-common mutation pattern in South Korea was Asp38Ala, which was detected in eight patients. Thirteen patients reported their family hometowns, and five of the eight harboring the Asp38Ala mutation were from the Gyeongsang province in southeast Korea. The other eight patients exhibited a widespread geographical distribution. A particularly noteworthy finding was that the valine at position 30 (Val30Met) mutation, which was previously reported as the most-common TTR mutation worldwide and also the most common in the Japanese population, was not detected in the present South Korean patients. Conclusions South Korean patients with hereditary TTR amyloidosis exhibited heterogeneous TTR genotypes and clinical phenotypes. The findings of this study suggest that the distribution of TTR amyloidosis in South Korea is due to de novo mutations and/or related to the other countries in East Asia.",
author = "Kyomin Choi and Seok, {Jin Myoung} and Kim, {Byoung Joon} and Choi, {Young Cheol} and Shin, {Ha Young} and Sunwoo, {Il Nam} and Kim, {Dae Seong} and Sung, {Jung Joon} and Lee, {Ga Yeon} and Jeon, {Eun Seok} and Kim, {Nam Hee} and Min, {Ju Hong} and Jeeyoung Oh",
year = "2018",
month = "10",
doi = "10.3988/jcn.2018.14.4.537",
language = "English",
volume = "14",
pages = "537--541",
journal = "Journal of Clinical Neurology (Korea)",
issn = "1738-6586",
publisher = "Korean Neurological Association",
number = "4",

}

Choi, K, Seok, JM, Kim, BJ, Choi, YC, Shin, HY, Sunwoo, IN, Kim, DS, Sung, JJ, Lee, GY, Jeon, ES, Kim, NH, Min, JH & Oh, J 2018, 'Characteristics of South Korean patients with hereditary transthyretin amyloidosis', Journal of Clinical Neurology (Korea), vol. 14, no. 4, pp. 537-541. https://doi.org/10.3988/jcn.2018.14.4.537

Characteristics of South Korean patients with hereditary transthyretin amyloidosis. / Choi, Kyomin; Seok, Jin Myoung; Kim, Byoung Joon; Choi, Young Cheol; Shin, Ha Young; Sunwoo, Il Nam; Kim, Dae Seong; Sung, Jung Joon; Lee, Ga Yeon; Jeon, Eun Seok; Kim, Nam Hee; Min, Ju Hong; Oh, Jeeyoung.

In: Journal of Clinical Neurology (Korea), Vol. 14, No. 4, 10.2018, p. 537-541.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Characteristics of South Korean patients with hereditary transthyretin amyloidosis

AU - Choi, Kyomin

AU - Seok, Jin Myoung

AU - Kim, Byoung Joon

AU - Choi, Young Cheol

AU - Shin, Ha Young

AU - Sunwoo, Il Nam

AU - Kim, Dae Seong

AU - Sung, Jung Joon

AU - Lee, Ga Yeon

AU - Jeon, Eun Seok

AU - Kim, Nam Hee

AU - Min, Ju Hong

AU - Oh, Jeeyoung

PY - 2018/10

Y1 - 2018/10

N2 - Background and Purpose This retrospective cross-sectional study included 18 patients from unrelated families harboring mutations of the transthyretin gene (TTR), and analyzed their characteristics and geographical distribution in South Korea. Methods The included patients had a diagnosis of systemic amyloidosis, clinical symptoms, such as amyloid neuropathy or cardiomyopathy, and confirmation of a TTR gene mutation using genetic analysis recorded between April 1995 and November 2014. Results The mean age at disease onset was 49.6 years, and the mean disease duration from symptom onset to diagnosis was 3.67 years. Fifteen of the 18 patients were classified as mixed phenotype, 2 as the neurological phenotype, and only 1 patient as the cardiac phenotype. The most-common mutation pattern in South Korea was Asp38Ala, which was detected in eight patients. Thirteen patients reported their family hometowns, and five of the eight harboring the Asp38Ala mutation were from the Gyeongsang province in southeast Korea. The other eight patients exhibited a widespread geographical distribution. A particularly noteworthy finding was that the valine at position 30 (Val30Met) mutation, which was previously reported as the most-common TTR mutation worldwide and also the most common in the Japanese population, was not detected in the present South Korean patients. Conclusions South Korean patients with hereditary TTR amyloidosis exhibited heterogeneous TTR genotypes and clinical phenotypes. The findings of this study suggest that the distribution of TTR amyloidosis in South Korea is due to de novo mutations and/or related to the other countries in East Asia.

AB - Background and Purpose This retrospective cross-sectional study included 18 patients from unrelated families harboring mutations of the transthyretin gene (TTR), and analyzed their characteristics and geographical distribution in South Korea. Methods The included patients had a diagnosis of systemic amyloidosis, clinical symptoms, such as amyloid neuropathy or cardiomyopathy, and confirmation of a TTR gene mutation using genetic analysis recorded between April 1995 and November 2014. Results The mean age at disease onset was 49.6 years, and the mean disease duration from symptom onset to diagnosis was 3.67 years. Fifteen of the 18 patients were classified as mixed phenotype, 2 as the neurological phenotype, and only 1 patient as the cardiac phenotype. The most-common mutation pattern in South Korea was Asp38Ala, which was detected in eight patients. Thirteen patients reported their family hometowns, and five of the eight harboring the Asp38Ala mutation were from the Gyeongsang province in southeast Korea. The other eight patients exhibited a widespread geographical distribution. A particularly noteworthy finding was that the valine at position 30 (Val30Met) mutation, which was previously reported as the most-common TTR mutation worldwide and also the most common in the Japanese population, was not detected in the present South Korean patients. Conclusions South Korean patients with hereditary TTR amyloidosis exhibited heterogeneous TTR genotypes and clinical phenotypes. The findings of this study suggest that the distribution of TTR amyloidosis in South Korea is due to de novo mutations and/or related to the other countries in East Asia.

UR - http://www.scopus.com/inward/record.url?scp=85059146120&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85059146120&partnerID=8YFLogxK

U2 - 10.3988/jcn.2018.14.4.537

DO - 10.3988/jcn.2018.14.4.537

M3 - Article

AN - SCOPUS:85059146120

VL - 14

SP - 537

EP - 541

JO - Journal of Clinical Neurology (Korea)

JF - Journal of Clinical Neurology (Korea)

SN - 1738-6586

IS - 4

ER -