Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B.
- Author:
Wei YANG
1
;
Feng-qin TAN
;
Miao SUN
;
Xuan ZENG
;
Jie LIU
;
Guo-yang LIU
;
Hui-yuan LUO
;
Xue ZHANG
Author Information
- Publication Type:Journal Article
- MeSH: Amino Acid Sequence; Base Sequence; China; DNA; chemistry; genetics; DNA Mutational Analysis; Family Health; Female; Fingers; abnormalities; Foot Deformities, Congenital; classification; genetics; Hand Deformities, Congenital; classification; genetics; Humans; Male; Mutagenesis, Insertional; Mutation; Pedigree; Receptor Tyrosine Kinase-like Orphan Receptors; Receptors, Cell Surface; genetics; Sequence Deletion; Toes; abnormalities
- From: Chinese Journal of Medical Genetics 2004;21(1):61-63
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the disease-causing mutation in a Chinese family with brachydactyly type B (BDB).
METHODSGenomic DNA was extracted from peripheral blood samples of family members. Exons 8 and 9 of the ROR2 gene were amplified by polymerase chain reaction (PCR) and sequenced directly. Furthermore, the PCR products showing mutation were cloned into pMD18T vector and the insert fragments were sequenced.
RESULTSA 1398-1399 insA heterozygous mutation was detected in the patient. This mutation had been found in German families with BDB.
CONCLUSIONTo the authors' knowledge, it is the first report on identification of the ROR2 pathogenic mutation in Chinese patients with BDB.
