Deletion of exons 16–17b of CFTR is frequently identified in Korean patients with cystic fibrosis

Research output: Contribution to journalArticleResearchpeer-review

Abstract

Cystic fibrosis (MIM #219700) is one of the most common autosomal recessively inherited diseases in Caucasians and is caused by pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. However, this disease is much less frequent in Asian populations. Here, we performed a clinical characterization of, and genetic analysis of CFTR in, Korean patients with cystic fibrosis. Six Korean patients from five families (two females and four males; median age, 12.5 years) were enrolled. Clinical data were assessed by retrospective review of medical records. The genetic variants of CFTR were analysed by sequencing analysis and multiple ligation-dependent probe amplification (MLPA). Among the six patients, five had at least one allele with a deletion of exons 16–17 b: four had a heterozygous deletion and one had a homozygous deletion. Six of 12 alleles (50%) showed 16–17 b multi-exon deletion. All six patients had a classical cystic fibrosis phenotype and presented with chronic steatorrhea and malabsorption from infancy, resulting in growth failure and chronic recurrent respiratory symptoms, including chronic sinusitis, mucus plugging, and bronchiectasis. All patients survived with supportive care. Early diagnosis and management are important for improving the clinical outcomes of patients with cystic fibrosis. Because of the high frequency of multi- or single-exon deletions in CFTR, we suggest that molecular investigation for identifying exon deletions should be performed to establish an early confirmative diagnosis in Asian populations, including populations in Korea and Japan.

Original languageEnglish
Article number103681
JournalEuropean Journal of Medical Genetics
Volume62
Issue number8
DOIs
StatePublished - 1 Aug 2019

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Cystic Fibrosis Transmembrane Conductance Regulator
Cystic Fibrosis
Exons
Early Diagnosis
Alleles
Population
Steatorrhea
Bronchiectasis
Sinusitis
Mucus
Regulator Genes
Korea
Medical Records
Ligation
Japan
Phenotype
Growth

Keywords

  • Cystic fibrosis
  • Cystic fibrosis transmembrane conductance regulator
  • East asia
  • Exon deletion
  • Korea

Cite this

@article{44493cfa98de45fcb4d45b09d1777d0a,
title = "Deletion of exons 16–17b of CFTR is frequently identified in Korean patients with cystic fibrosis",
abstract = "Cystic fibrosis (MIM #219700) is one of the most common autosomal recessively inherited diseases in Caucasians and is caused by pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. However, this disease is much less frequent in Asian populations. Here, we performed a clinical characterization of, and genetic analysis of CFTR in, Korean patients with cystic fibrosis. Six Korean patients from five families (two females and four males; median age, 12.5 years) were enrolled. Clinical data were assessed by retrospective review of medical records. The genetic variants of CFTR were analysed by sequencing analysis and multiple ligation-dependent probe amplification (MLPA). Among the six patients, five had at least one allele with a deletion of exons 16–17 b: four had a heterozygous deletion and one had a homozygous deletion. Six of 12 alleles (50{\%}) showed 16–17 b multi-exon deletion. All six patients had a classical cystic fibrosis phenotype and presented with chronic steatorrhea and malabsorption from infancy, resulting in growth failure and chronic recurrent respiratory symptoms, including chronic sinusitis, mucus plugging, and bronchiectasis. All patients survived with supportive care. Early diagnosis and management are important for improving the clinical outcomes of patients with cystic fibrosis. Because of the high frequency of multi- or single-exon deletions in CFTR, we suggest that molecular investigation for identifying exon deletions should be performed to establish an early confirmative diagnosis in Asian populations, including populations in Korea and Japan.",
keywords = "Cystic fibrosis, Cystic fibrosis transmembrane conductance regulator, East asia, Exon deletion, Korea",
author = "Sohn, {Young Bae} and Ko, {Jung Min} and Jang, {Ju Young} and Moon-Woo Seong and Park, {Sung Sup} and Suh, {Dong In} and Ko, {Jae Sung} and Shin, {Choong Ho}",
year = "2019",
month = "8",
day = "1",
doi = "10.1016/j.ejmg.2019.103681",
language = "English",
volume = "62",
journal = "European Journal of Medical Genetics",
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Deletion of exons 16–17b of CFTR is frequently identified in Korean patients with cystic fibrosis. / Sohn, Young Bae; Ko, Jung Min; Jang, Ju Young; Seong, Moon-Woo; Park, Sung Sup; Suh, Dong In; Ko, Jae Sung; Shin, Choong Ho.

In: European Journal of Medical Genetics, Vol. 62, No. 8, 103681, 01.08.2019.

Research output: Contribution to journalArticleResearchpeer-review

TY - JOUR

T1 - Deletion of exons 16–17b of CFTR is frequently identified in Korean patients with cystic fibrosis

AU - Sohn, Young Bae

AU - Ko, Jung Min

AU - Jang, Ju Young

AU - Seong, Moon-Woo

AU - Park, Sung Sup

AU - Suh, Dong In

AU - Ko, Jae Sung

AU - Shin, Choong Ho

PY - 2019/8/1

Y1 - 2019/8/1

N2 - Cystic fibrosis (MIM #219700) is one of the most common autosomal recessively inherited diseases in Caucasians and is caused by pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. However, this disease is much less frequent in Asian populations. Here, we performed a clinical characterization of, and genetic analysis of CFTR in, Korean patients with cystic fibrosis. Six Korean patients from five families (two females and four males; median age, 12.5 years) were enrolled. Clinical data were assessed by retrospective review of medical records. The genetic variants of CFTR were analysed by sequencing analysis and multiple ligation-dependent probe amplification (MLPA). Among the six patients, five had at least one allele with a deletion of exons 16–17 b: four had a heterozygous deletion and one had a homozygous deletion. Six of 12 alleles (50%) showed 16–17 b multi-exon deletion. All six patients had a classical cystic fibrosis phenotype and presented with chronic steatorrhea and malabsorption from infancy, resulting in growth failure and chronic recurrent respiratory symptoms, including chronic sinusitis, mucus plugging, and bronchiectasis. All patients survived with supportive care. Early diagnosis and management are important for improving the clinical outcomes of patients with cystic fibrosis. Because of the high frequency of multi- or single-exon deletions in CFTR, we suggest that molecular investigation for identifying exon deletions should be performed to establish an early confirmative diagnosis in Asian populations, including populations in Korea and Japan.

AB - Cystic fibrosis (MIM #219700) is one of the most common autosomal recessively inherited diseases in Caucasians and is caused by pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. However, this disease is much less frequent in Asian populations. Here, we performed a clinical characterization of, and genetic analysis of CFTR in, Korean patients with cystic fibrosis. Six Korean patients from five families (two females and four males; median age, 12.5 years) were enrolled. Clinical data were assessed by retrospective review of medical records. The genetic variants of CFTR were analysed by sequencing analysis and multiple ligation-dependent probe amplification (MLPA). Among the six patients, five had at least one allele with a deletion of exons 16–17 b: four had a heterozygous deletion and one had a homozygous deletion. Six of 12 alleles (50%) showed 16–17 b multi-exon deletion. All six patients had a classical cystic fibrosis phenotype and presented with chronic steatorrhea and malabsorption from infancy, resulting in growth failure and chronic recurrent respiratory symptoms, including chronic sinusitis, mucus plugging, and bronchiectasis. All patients survived with supportive care. Early diagnosis and management are important for improving the clinical outcomes of patients with cystic fibrosis. Because of the high frequency of multi- or single-exon deletions in CFTR, we suggest that molecular investigation for identifying exon deletions should be performed to establish an early confirmative diagnosis in Asian populations, including populations in Korea and Japan.

KW - Cystic fibrosis

KW - Cystic fibrosis transmembrane conductance regulator

KW - East asia

KW - Exon deletion

KW - Korea

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U2 - 10.1016/j.ejmg.2019.103681

DO - 10.1016/j.ejmg.2019.103681

M3 - Article

VL - 62

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

IS - 8

M1 - 103681

ER -