Source:http://linkedlifedata.com/resource/pubmed/id/20710116
Switch to
| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
9
|
| pubmed:dateCreated |
2010-10-5
|
| pubmed:abstractText |
Germline mutations in the MEN1 gene are well documented as the genetic cause of multiple endocrine neoplasia type 1 (MEN1). In this study, we performed genetic analysis by direct MEN1 gene mutation analysis on a Chinese MEN1 family. The two patients in this family were diagnosed as MEN1 by the typical clinical findings of parathyroidoma, insulinoma and pituitary adenoma. The coding sequences, including 9 coding exons and exon/intron boundaries of the MEN1 gene were amplified by polymerase chain reaction (PCR) and subjected to direct sequencing. Sequence analysis showed a same novel insertion mutation in exon 3 (c.433_434ins CTTC) in both patients, resulting in an open reading frames shift and produced a premature termination codon. None of the other family members had this insert mutation. In conclusion, we add a new mutation of MEN1 gene in Chinese patients with MEN1, and it would be useful for the diagnosis of the disease.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:issn |
1348-4540
|
| pubmed:author | |
| pubmed:issnType |
Electronic
|
| pubmed:volume |
57
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
839-45
|
| pubmed:dateRevised |
2011-6-16
|
| pubmed:meshHeading |
pubmed-meshheading:20710116-Adenoma,
pubmed-meshheading:20710116-Adolescent,
pubmed-meshheading:20710116-Asian Continental Ancestry Group,
pubmed-meshheading:20710116-Base Sequence,
pubmed-meshheading:20710116-China,
pubmed-meshheading:20710116-Codon, Nonsense,
pubmed-meshheading:20710116-Female,
pubmed-meshheading:20710116-Germ-Line Mutation,
pubmed-meshheading:20710116-Humans,
pubmed-meshheading:20710116-Male,
pubmed-meshheading:20710116-Middle Aged,
pubmed-meshheading:20710116-Multiple Endocrine Neoplasia Type 1,
pubmed-meshheading:20710116-Mutagenesis, Insertional,
pubmed-meshheading:20710116-Mutation,
pubmed-meshheading:20710116-Pancreatic Neoplasms,
pubmed-meshheading:20710116-Parathyroid Neoplasms,
pubmed-meshheading:20710116-Pedigree,
pubmed-meshheading:20710116-Pituitary Neoplasms
|
| pubmed:year |
2010
|
| pubmed:articleTitle |
A novel mutation of the MEN1 gene in a Chinese kindred with multiple endocrine neoplasia type 1.
|
| pubmed:affiliation |
Department of Endocrinology, Affiliated East Hospital, Tongji University, Shanghai, China.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|