Lethal Multiple Pterygium Syndrome: A Severe Phenotype Associated with a Novel Mutation in the Nebulin Gene

Highlights • Fetal akinesia deformation sequence is a genetically heterogeneous disorder. • The nebulin gene is involved in the etiology of lethal multiple pterygium syndrome. • NEB mutations are associated with a wide spectrum of phenotypic manifestations. • Next generation sequencing is a valuable...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2017-06, Vol.27 (6), p.537-541
Hauptverfasser:	Abdalla, Ebtesam, Ravenscroft, Gianina, Zayed, Louay, Beecroft, Sarah, Laing, Nigel G
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology Aborted Fetus - pathology Female Fetal akinesia Gestational Age Homozygote Humans Lethal multiple pterygium syndrome Malignant Hyperthermia - genetics Malignant Hyperthermia - pathology Muscle Proteins - genetics Mutation Nebulin gene Neurology Phenotype Pregnancy Pregnancy Complications Skin Abnormalities - genetics Skin Abnormalities - pathology
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Beschreibung
Zusammenfassung:	Highlights • Fetal akinesia deformation sequence is a genetically heterogeneous disorder. • The nebulin gene is involved in the etiology of lethal multiple pterygium syndrome. • NEB mutations are associated with a wide spectrum of phenotypic manifestations. • Next generation sequencing is a valuable tool for the evaluation of fetal akinesia.
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2017.01.013