Publication:
Case report of a Thai male cystic fibrosis patinet with the 1898+ 1G-->T splicing mutation in the CFTR gene: a review of East Asian cases. Mutations in brief no. 196. Online.

1

Issued Date

1998-12-01

Resource Type

Article

ISSN

10597794

Other identifier(s)

2-s2.0-0032222588

Rights

Mahidol University

Rights Holder(s)

SCOPUS

Bibliographic Citation

Human mutation. Vol.12, No.5 (1998), 361

Suggested Citation

S. Suwanjutha, N. N. Huang, D. Wattanasirichaigoon, T. Sura, A. Harris, M. Macek Case report of a Thai male cystic fibrosis patinet with the 1898+ 1G-->T splicing mutation in the CFTR gene: a review of East Asian cases. Mutations in brief no. 196. Online.. Human mutation. Vol.12, No.5 (1998), 361. Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/18278

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Title

Case report of a Thai male cystic fibrosis patinet with the 1898+ 1G-->T splicing mutation in the CFTR gene: a review of East Asian cases. Mutations in brief no. 196. Online.

Author(s)

S. Suwanjutha
 N. N. Huang
 D. Wattanasirichaigoon
 T. Sura
 A. Harris
 M. Macek

Other Contributor(s)

Mahidol University

Abstract

Cystic fibrosis (CF) is the most common fatal autosomal recessive multisystem disorder, which occurs mainly in European-derived populations. The incidence of CF varies between 1 in 2000 to 3000 live-births in various ethnic groups. The disease is rare in East Asians. Here we report a 9 year old Thai male patient, who was diagnosed to have CF based on recurrent pneumonia, a slow weight gain, pancreatic insufficiency and repeatedly elevated sweat chloride levels by two different methods. A comprehensive genetic analysis showed the splicing mutation, 1898+ 1G-->T, which was apparently of maternal origin. Literature search found 39 documented cases of CF patients in East Asians. CFTR (MIM# 602421) genotyping was performed in 14 patients including our patient and in 9 of them a CF allele was identified. The findings seem to indicate that the splicing mutations, 1898+ 1G-->T and 1898+ 5G-->T are more common in East Asian CF patients.

Keyword(s)

Biochemistry, Genetics and Molecular Biology
 Medicine

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URI

https://repository.li.mahidol.ac.th/handle/123456789/18278

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Scopus 1991-2000