Detection of a large heterozygous deletion and a splicing defect in the CFTR transcripts from nasal swab of a Japanese case of cystic fibrosis

Nakakuki, Miyuki; Fujiki, Kazuo; Yamamoto, Akiko; Ko, Shigeru B. H.; Yi, Lanjuan; Ishiguro, Masanobu; Yamaguchi, Makoto; Kondo, Shun; Maruyama, Shinsuke; Yanagimoto, Kosuke; Naruse, Satoru; Ishiguro, Hiroshi

doi:10.1038/jhg.2012.46

Cited by 12 publications

(15 citation statements)

References 25 publications

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“…With wide application of high‐throughput sequencing, genetic analysis of the entire coding region has become cost‐effective. Novel mutations continue to be discovered, and non‐coding CFTR variants have been identified, including rearrangements and deletions and polymorphisms in the untranslated region …”

Section: Introductionmentioning

confidence: 99%

Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens

Wang

An²,

Liu

et al. 2020

Andrology

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Background Congenital bilateral absence of the vas deferens (CBAVD) is a frequent cause of obstructive azoospermia. CBAVD is mainly caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene and is also related to the X‐linked ADGRG2 (adhesion G protein‐coupled receptor G2) gene. Genetic screening and counseling strategies for Chinese CBAVD populations remain controversial because the genetic background of CBAVD in Chinese population is largely unknown. Objectives In this study, we aimed to study the mutation spectrum of CFTR and ADGRG2 in a group of CBAVD patients and to evaluate sperm retrieval outcomes in a subset of CBAVD patients. Materials and methods Next‐generation targeted sequencing was used to identify mutations in the CFTR and ADGRG2 genes in 38 CBAVD patients. In addition, we followed and analyzed nine of the 38 patients who were undergoing sperm retrieval surgery. Results In total, 27 of 38 (71.05%) patients carried at least one likely pathogenic or pathogenic mutation in CFTR or ADGRG2. In addition to the IVS9‐5T allele, 15 CFTR and 1 ADGRG2 mutations were identified, including 4 novel mutations. CFTR hot‐spot mutations were not identified in our study. Spermatozoon was successfully obtained in all nine patients who underwent MESA or TESE surgery, but most patients had spermatozoa with relatively low motility and high abnormality rates. Discussion and conclusion Except for the IVS9‐5T allele, hot‐spot mutations of CFTR may not exist in Chinese CBAVD patients. Therefore, next‐generation targeted sequencing for whole CFTR and ADGRG2 gene may be the appropriate genetic testing method, and genetic counseling may be different from Caucasian populations. We observed a high success rate of sperm retrieval with relatively low motility and high abnormality rates in Chinese CBAVD patients. However, this is only a weak conclusion due to the small sample size.

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Section: Introductionmentioning

confidence: 99%

Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens

Wang

An²,

Liu

et al. 2020

Andrology

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“…Three different studies conducted over a 10‐year period on approximately 500 Iranian CF individuals revealed failure to thrive, recurrent pulmonary infections, and steatorrhoea as the most common presenting features . Individual case reports on CF from China, Korea and Japan have documented typical clinical symptoms including bilateral bronchiectasis, pancreatic atrophy, meconium ileus, abnormal nutritional status and P. aeruginosa colonization . In Kuwaiti, UAE and Indian CF patients, metabolic alkalosis, hyponatremia and peripheral neuropathy have been reported as atypical symptoms …”

Section: Clinical Manifestations Of Cf In Asian Populationmentioning

confidence: 99%

“…There are 116 additional rare CFTR variants reported from Asian countries and the majority of these variants have been observed only once. Among these variants 24 are from South Asia, 54 from Middle East Asia and 38 from East Asia (Table ) . The Delexon 16‐17b variant ( CFTR dele18‐20) has been observed in both Chinese and Japanese CF individuals .…”

Section: Distribution and Functional Consequences Of Cftr Variants Inmentioning

confidence: 99%

“…Among these variants 24 are from South Asia, 54 from Middle East Asia and 38 from East Asia (Table ) . The Delexon 16‐17b variant ( CFTR dele18‐20) has been observed in both Chinese and Japanese CF individuals . Interestingly, F508del has never been documented on CF alleles that originated from East Asian ancestry (China, Korea, Japan, Vietnam and Thailand) .…”

Section: Distribution and Functional Consequences Of Cftr Variants Inmentioning

confidence: 99%

“…The Delexon 16‐17b variant ( CFTR dele18‐20) has been observed in both Chinese and Japanese CF individuals . Interestingly, F508del has never been documented on CF alleles that originated from East Asian ancestry (China, Korea, Japan, Vietnam and Thailand) . One possible explanation could be the different distribution of poly‐T‐(TG) n ‐M470V haplotype in Japanese and Korean individuals compared with white CF population.…”

Section: Distribution and Functional Consequences Of Cftr Variants Inmentioning

confidence: 99%

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Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next‐generation treatments

et al. 2015

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Cystic fibrosis (CF) in the Asian population is less frequently reported due to under-diagnosis and lack of centralized CF patient registries. Clinical studies on CF cases from Asia have documented a severe course of the disease. The spectrum of the cystic fibrosis transmembrane conductance regulator (CFTR) variants in this population is quite heterogeneous. In total, 166 variants have been reported on approximately 3700 Asian CF chromosomes. The frequency of F508del among Asians is low compared with Caucasians. Recent in vitro studies have shown promise of small molecule correction and potentiation of 45 different CFTR variants. Of these variants, 16 (including G551D and F508del) have also been observed among Asian CF individuals. We suggest undertaking molecular studies extensively to annotate CFTR variants that will help Asian CF individuals to benefit from the precision medicine gaining momentum in the Western countries.

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Diagnosis of cystic fibrosis in an adult Japanese male

Tomoda

Arai

Kawaguchi

et al. 2018

J of Gen and Family Med

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Detection of a large heterozygous deletion and a splicing defect in the CFTR transcripts from nasal swab of a Japanese case of cystic fibrosis

Cited by 12 publications

References 25 publications

Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens

Genetic diagnosis and sperm retrieval outcomes for Chinese patients with congenital bilateral absence of vas deferens

Epidemiology and genetics of cystic fibrosis in Asia: In preparation for the next‐generation treatments

Diagnosis of cystic fibrosis in an adult Japanese male

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