[Prenatal diagnosis of a case with X-linked spondyloepiphyseal dysplasia tarda].
OBJECTIVE
To analyze TRAPPC2 gene mutation in a family with X-linked spondyloepiphyseal dysplasia tarda and to provide genetic counseling and prenatal diagnosis.


METHODS
All of 4 exons of the TRAPPC2 gene and their flanking sequences in the proband and her father were analyzed with polymerase chain reaction and direct DNA sequencing. Genomic DNA of the probands' fetus was extracted from amniotic fluid sampled at 18th gestational week. Gender of the fetus was determined by the presence of SRY gene. The sequence of fetal TRAPPC2 gene was also analyzed.


RESULTS
A c.209G>A mutation was identified in exon 4 of the TRAPPC2 gene in the proband and her father. The fetus of was determined to be a male and also have carried the c.209G>A mutation.


CONCLUSIONS
A c.209G>A mutation of TRAPPC2 exon 4 probably underlies the clinical manifestations in this family. The proband is a carrier, and her fetus is a male carrying the same mutation. Prenatal diagnosis is an effective method for the prevention of the disease.
Department of Reproductive Health Laboratory, Changzhou Women and Children Health Hospital Affiliated to Nanjing Medical University, Changzhou, Jiangsu 213000, P.R. China Email: wqw1964@163.com.
Fang
F
Cao
Qiu-wei
QW
Wang
Bin
B
Yu
Rui-ping
RP
Huang
Ya-li
YL
Hu
Xiao-qing
XQ
Zhang
D001483:Base Sequence; D005260:Female; D005817:Genetic Counseling; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000196:embryology / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D010009:Osteochondrodysplasias / Q000235:genetics*; D017354:Point Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis