Clinical and Experimental Reproductive Medicine  2013;40(1):42-46

doi:10.5653/cerm.2013.40.1.42

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).

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

Affiliations

+expand

Keywords

Hypochondroplasia; Preimplantation genetic diagnosis; Receptor, fibroblast growth factor, type 3

Country

Republic 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.