[Identification of a recurrent mutation in the ROR2 gene in a Chinese family with brachydactyly type B].
OBJECTIVE
To identify the disease-causing mutation in a Chinese family with brachydactyly type B (BDB).


METHODS
Genomic 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.


RESULTS
A 1398-1399 insA heterozygous mutation was detected in the patient. This mutation had been found in German families with BDB.


CONCLUSIONS
To the authors' knowledge, it is the first report on identification of the ROR2 pathogenic mutation in Chinese patients with BDB.
Yang
Wei
W
Department of Medical Genetics and National Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Peking Union Medical College Chinese Academy of Medical Sciences, Beijing, PR China.
Tan
Feng-qin
FQ
Sun
Miao
M
Zeng
Xuan
X
Liu
Jie
J
Liu
Guo-yang
GY
Luo
Hui-yuan
HY
Zhang
Xue
X
D000595:Amino Acid Sequence; D001483:Base Sequence; D002681:China; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005532:Foot Deformities, Congenital / Q000145:classification / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000145:classification / Q000235:genetics*; D006801:Humans; D008297:Male; D016254:Mutagenesis, Insertional; D009154:Mutation; D010375:Pedigree; D057050:Receptor Tyrosine Kinase-like Orphan Receptors; D011956:Receptors, Cell Surface / Q000235:genetics*; D017384:Sequence Deletion; D014034:Toes / Q000002:abnormalities
D011956:Receptors, Cell Surface; D004247:DNA; C078717:ROR2 protein, human; D057050:Receptor Tyrosine Kinase-like Orphan Receptors