Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K).
10.5653/cerm.2013.40.1.42
- Author:
Kyung Eui PARK
1
;
Sung Ah KIM
;
Moon Joo KANG
;
Hee Sun KIM
;
Sung Im CHO
;
Kyoung Won YOO
;
So Yeon KIM
;
Hye Jun LEE
;
Sun Kyung OH
;
Moon Woo SEONG
;
Seung Yup KU
;
Jong Kwan JUN
;
Sung Sup PARK
;
Young Min CHOI
;
Shin Yong MOON
Author Information
1. Department of Obstetrics and Gynecology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea. ymchoi@snu.ac.kr
- Publication Type:Case Report
- Keywords:
Hypochondroplasia;
Preimplantation genetic diagnosis;
Receptor, fibroblast growth factor, type 3
- MeSH:
Blastomeres;
Bone and Bones;
Dwarfism;
Embryonic Structures;
Female;
Fetus;
Humans;
Infant, Newborn;
Limb Deformities, Congenital;
Lordosis;
Lymphocytes;
Molecular Biology;
Parturition;
Polymerase Chain Reaction;
Pregnancy;
Preimplantation Diagnosis;
Prostaglandins D;
Receptor, Fibroblast Growth Factor, Type 3;
Sequence Analysis
- From:Clinical and Experimental Reproductive Medicine
2013;40(1):42-46
- CountryRepublic of Korea
- Language:English
-
Abstract:
Hypochondroplasia (HCH) is an autosomal dominant inherited skeletal dysplasia, usually caused by a heterozygous mutation in the fibroblast growth factor receptor 3 gene (FGFR3). A 27-year-old HCH woman with a history of two consecutive abortions of HCH-affected fetuses visited our clinic for preimplantation genetic diagnosis (PGD). We confirmed the mutation in the proband (FGFR3:c.1620C>A, p.N540K), and established a nested allele-specific PCR and sequence analysis for PGD using single lymphocyte cells. We performed this molecular genetic analysis to detect the presence of mutation among 20 blastomeres from 18 different embryos, and selected 9 embryos with the wild-type sequence (FGFR3:c.1620C). A successful pregnancy was achieved through a frozen-thawed cycle and resulted in the full-term birth of a normal neonate. To the best of our knowledge, this is the first report of a successful pregnancy and birth using single-cell allele-specific PCR and sequencing for PGD in an HCH patient.
