title: Rapid molecular prenatal diagnosis of spondyloepiphyseal dysplasia congenita by PCR-SSP assay.
abstract: Heterozygous mutations of COL2A1 gene are responsible for type II collagenopathies. The common skeletal phenotypes include achondrogenesis type II, hypochondrogenesis, Stickler dysplasia, Kniest dysplasia, late onset spondyloepiphyseal dysplasia, and spondyloepiphyseal dysplasia congenita (SEDC). Prevention of SEDC can be achieved by prenatal diagnosis. This study reports the first rapid molecular prenatal diagnosis of SEDC performed in China by polymerase chain reaction sequence-specific primer (PCR-SSP) analysis. The pregnant woman we previously reported with SEDC carried the G to A substitution at nucleotide 1510 in exon 23 of COL2A1 gene, which caused a change from glycine to serine at codon 504 (G504S). By the time the woman got pregnant again, she had terminated two pregnancies and still had no child. In the first pregnancy, the molecular mutation of the family was not yet identified, and therefore prenatal diagnosis was unable to be performed by DNA analysis. In the second pregnancy, G504S mutation was found from fetal DNA. At the time of her third pregnancy, the woman and her husband became extremely worried about the potential SEDC for the fetus. For this reason, a quick and reliable molecular prenatal diagnosis of SEDC was performed by a PCR-SSP on an amniocyte sample collected at the 14th week of pregnancy. No mutation of the fetal DNA was identified. The result was obtained within 24 h after the sample was collected. The technique could be applied in confirmatory diagnosis and prenatal diagnosis for the affected family.
authors.affiliation: Department of Reproduction and Genetics, Jinling Hospital, Clinical School of Medical College, Nanjing University , Nanjing, P.R. China.
authors.forename: Ying-Xia
authors.initials: YX
authors.lastname: Cui
authors.forename: Xin-Yi
authors.initials: XY
authors.lastname: Xia
authors.forename: Ying
authors.initials: Y
authors.lastname: Bu
authors.forename: Guo-Hua
authors.initials: GH
authors.lastname: Zhou
authors.forename: Bin
authors.initials: B
authors.lastname: Yang
authors.forename: Hong-Yong
authors.initials: HY
authors.lastname: Lu
authors.forename: Yi-Chao
authors.initials: YC
authors.lastname: Shi
authors.forename: Lian-Jun
authors.initials: LJ
authors.lastname: Pan
authors.forename: Yu-Feng
authors.initials: YF
authors.lastname: Huang
authors.forename: Xiao-Jun
authors.initials: XJ
authors.lastname: Li
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D024043:Collagen Type II / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010009:Osteochondrodysplasias / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D055815:Young Adult
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II; D017931:DNA Primers