Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations

Joke Muys; Bettina Blaumeiser; Yves Jacquemyn; Katrien Janssens

doi:10.1002/ccr3.800

Prenatal homozygosity mapping detects a novel mutation in CHST3 in a fetus with skeletal dysplasia and joint dislocations

Clin Case Rep. 2017 Mar 1;5(4):440-445. doi: 10.1002/ccr3.800. eCollection 2017 Apr.

Authors

Joke Muys¹, Bettina Blaumeiser¹, Yves Jacquemyn¹, Katrien Janssens²

Affiliations

¹ University Hospital Antwerp Edegem Belgium.
² University of Antwerp Edegem Belgium.

Abstract

In selected cases, homozygosity mapping followed by direct sequencing of one or a few carefully selected candidate genes in a prenatal setting can be beneficial to obtain diagnosis in consanguineous families.

Keywords: CHST3; homozygosity mapping; prenatal; single nucleotide polymorphism array; skeletal dysplasia; spondyloephiphyseal dysplasia.

Publication types

Case Reports