title: Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling.
abstract: Achondrogenesis type II is an autosomal-dominant disease leading to severe micromelic dwarfism. Here, we report on the postmortem identification of a de novo heterozygous mutation in the COL2A1 gene (c.1529G>A, p.Gly510Asp) in a fetus who presented with generalized hydrops fetalis and severe micromelia during prenatal sonographic examinations. Initially, a reciprocal translocation t(4;17)(q31;p13) was detected in this fetus by chorionic villus sampling. Subsequent chromosomal analysis of maternal and paternal blood showed that the patient's mother was carrier of the same reciprocal translocation. SNP array analysis of the fetus did not provide evidence for chromosomal imbalances or CNVs that could be associated with the fetal phenotype. The coexistence of a cytogenetic (reciprocal translocation) and a molecular genetic (COL2A1 mutation) abnormality in the fetus carries important implications for genetic counseling.
authors.affiliation: Institute of Human Genetics, University of Wuerzburg, Wuerzburg, Germany.
authors.forename: Tilman
authors.initials: T
authors.lastname: Heinrich
authors.forename: Indrajit
authors.initials: I
authors.lastname: Nanda
authors.forename: Monika
authors.initials: M
authors.lastname: Rehn
authors.forename: Ursula
authors.initials: U
authors.lastname: Zollner
authors.forename: Karen
authors.initials: K
authors.lastname: Ernestus
authors.forename: Clemens
authors.initials: C
authors.lastname: Wirth
authors.forename: Gregor
authors.initials: G
authors.lastname: Schlüter
authors.forename: Michael
authors.initials: M
authors.lastname: Schmid
authors.forename: Erdmute
authors.initials: E
authors.lastname: Kunstmann
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000028:Abortion, Induced; D000130:Achondroplasia / Q000235:genetics*; D024043:Collagen Type II / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D015160:Hydrops Fetalis; D009139:Musculoskeletal Abnormalities / Q000235:genetics*; D009154:Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic / Q000235:genetics
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II