Genetics of neuromuscular fetal akinesia in the genomics era. Issue 8 (29th June 2018)

• Record Type: Journal Article
• Authors: Beecroft, Sarah Jane; Lombard, Marcus; Mowat, David; McLean, Catriona; Cairns, Anita; Davis, Mark; Laing, Nigel G; Ravenscroft, Gianina
• Is Part Of: Journal of medical genetics. Volume 55:Issue 8(2018)
• Page Start: 505
• Page End: 514
• Publication Date: 2018-06-29
• Subjects: developmental -- diagnostics tests -- molecular genetics -- neuromuscular disease -- clinical genetics; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmedgenet-2018-105266
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Fetal hypokinesia or akinesia encompasses a broad spectrum of disorders, united by impaired movement in utero. Often, the underlying aetiology is genetic in origin, affecting part of the neuromuscular system. The affordable and high-throughput nature of next-generation DNA sequencing has led to an explosion in disease gene discovery across rare diseases, including fetal akinesias. A genetic diagnosis has clinical utility as it may affect management and prognosis and informs recurrence risk, facilitating family planning decisions. More broadly, knowledge of disease genes increasingly allows population-based preconception carrier screening, which has reduced the incidence of recessive diseases in several populations. Despite gains in knowledge of the genetics of fetal akinesia, many families lack a genetic diagnosis. In this review, we describe the developments in Mendelian genetics of neuromuscular fetal akinesia in the genomics era. We examine genetic diagnoses with neuromuscular causes, specifically including the lower motor neuron, peripheral nerve, neuromuscular junction and muscle.