Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation

Juvenile polyposis (JP) is characterized by the development of multiple hamartomatous polyps and is inherited as an autosomal dominant trait. Germline mutations of the SMAD4 gene have been reported in JP. We have previously identified three SMAD4 germline mutations in five Korean JP patients. Recent...

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Bibliographic Details
Published in:Clinical genetics 2003-02, Vol.63 (2), p.126-130
Main Authors: Kim, I-J, Park, J-H, Kang, HC, Kim, K-H, Kim, J-H, Ku, J-L, Kang, S-B, Park, SY, Lee, J-S, Park, J-G
Format: Article
Language:English
Subjects:
Adenomatous Polyposis Coli - genetics
Adolescent
Biological and medical sciences
BMPR1A
Bone Morphogenetic Protein Receptors, Type I
Chromatography, High Pressure Liquid
DNA Mutational Analysis
DNA-Binding Proteins - genetics
Gastroenterology. Liver. Pancreas. Abdomen
Germ-Line Mutation
germline
Humans
juvenile polyposis
Korea
Medical sciences
mutations
Other diseases. Semiology
Polymorphism, Genetic
Protein-Serine-Threonine Kinases - genetics
Receptors, Growth Factor - genetics
Sequence Analysis, DNA
SMAD4
Smad4 Protein
Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
Trans-Activators - genetics
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Summary:Juvenile polyposis (JP) is characterized by the development of multiple hamartomatous polyps and is inherited as an autosomal dominant trait. Germline mutations of the SMAD4 gene have been reported in JP. We have previously identified three SMAD4 germline mutations in five Korean JP patients. Recently, germline mutations of the BMPR1A (ALK3) gene were reported in JP cases without SMAD4 mutations. In order to determine whether BMPR1A could be involved in the development of JP, we screened all five patients using denaturing high‐performance liquid chromatography (DHPLC) analysis. We found that one patient had a BMPR1A germline mutation without a SMAD4 mutation. This patient harbored a novel missense mutation (M470T) in exon 10. After close clinico‐pathological examination, one patient who was previously diagnosed to have JP was excluded from the JP group. In total, all four Korean JP patients had either the SMAD4 or the BMPR1A mutation, with three having SMAD4 germline mutations and one carrying a BMPR1A germline mutation.
ISSN:0009-9163
1399-0004
DOI:10.1034/j.1399-0004.2003.00008.x