title: Prenatal diagnosis of X-linked myopathy associated with aVMA21gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings.
abstract: Fetal malformations detected through routine prenatal ultrasound examination comprise a heterogeneous group potentially associated with genetic disorders where the underlying cause is difficult to establish. We present the prenatal diagnosis of a rare X-linked myopathy involving a new VMA21 gene mutation, detected through a novel prenatal exome sequencing-based approach.
authors.affiliation: InterGenetics - Diagnostic Genetics Centre Athens 11526 Greece; Genomis Ltd, Lynton House London WC1H 9BQ UK.
authors.forename: Christopher
authors.identifier: 0000-0002-3798-3077
authors.initials: C
authors.lastname: Konialis
authors.affiliation: 2nd Department of Obstetrics and Gynecology Ippokrateion General Hospital Aristotle University of Thessaloniki Thessaloniki Greece.
authors.forename: Efstratios
authors.initials: E
authors.lastname: Assimakopoulos
authors.affiliation: InterGenetics - Diagnostic Genetics Centre Athens 11526 Greece; Genomis Ltd, Lynton House London WC1H 9BQ UK.
authors.forename: Birgitta
authors.initials: B
authors.lastname: Hagnefelt
authors.affiliation: InterGenetics - Diagnostic Genetics Centre Athens 11526 Greece.
authors.forename: Sophia
authors.initials: S
authors.lastname: Karapanou
authors.affiliation: 2nd Department of Obstetrics and Gynecology Ippokrateion General Hospital Aristotle University of Thessaloniki Thessaloniki Greece.
authors.forename: Alexandros
authors.initials: A
authors.lastname: Sotiriadis
authors.affiliation: InterGenetics - Diagnostic Genetics Centre Athens 11526 Greece; Genomis Ltd, Lynton House London WC1H 9BQ UK.
authors.forename: Constantinos
authors.initials: C
authors.lastname: Pangalos
keywords: Arthrogryposis; exome sequencing; fetal ultrasound; myopathy; prenatal diagnosis