J Med Genet. 2018 Jun 29. pii: jmedgenet-2018-105266. doi: 10.1136/jmedgenet-2018-105266. [Epub ahead of print]
Genetics of neuromuscular fetal akinesia in the genomics era.
Beecroft SJ#1,2, Lombard M#1,2, Mowat D3, McLean C4, Cairns A5, Davis M6, Laing NG1,2, Ravenscroft G1,2.
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 geneticdiagnoses with neuromuscular causes, specifically including the lower motor neuron, peripheral nerve, neuromuscular junction and muscle.
KEYWORDS:
clinical genetics; developmental; diagnostics tests; molecular genetics; neuromuscular disease
- PMID:
- 29959180
- DOI:
- 10.1136/jmedgenet-2018-105266
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