Clin Exp Reprod Med.  2013 Mar;40(1):42-46. 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)

• Park KE
• Kim SA
• Kang MJ
• Kim HS
• Cho SI
• Yoo KW
• Kim SY
• Lee HJ
• Oh SK
• Seong MW
• Ku SY
• Jun JK
• Park SS
• Choi YM
• Moon SY

• KMID: 1430083
• DOI: http://doi.org/10.5653/cerm.2013.40.1.42

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.

Keyword

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

MeSH Terms

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
Bone and Bones
Dwarfism
Limb Deformities, Congenital
Lordosis
Prostaglandins D
Receptor, Fibroblast Growth Factor, Type 3