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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Published inNeuromuscular disorders : NMD Vol. 27; no. 6; pp. 537 - 541
Main Authors Abdalla, Ebtesam, Ravenscroft, Gianina, Zayed, Louay, Beecroft, Sarah, Laing, Nigel G
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.06.2017
Subjects
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
lethal multiple pterygium syndrome
nebulin gene
Fetal akinesia
Lethal multiple pterygium syndrome
Nebulin gene
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Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2017.01.013