Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The genomic and clinical landscape of fetal akinesia.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2020

Pergande Matthias, Motameny Susanne, Özdemir Özkan, Kreutzer Mona, Wang Haicui, Daimagüler Hülya-Sevcan, Becker Kerstin, Karakaya Mert, Ehrhardt Harald, Elcioglu Nursel, Ostojic Slavica, Chao Cho-Ming, Kawalia Amit, Duman Özgür, Koy Anne, Hahn Andreas, Reimann Jens, Schoner Katharina, Schänzer Anne, Westhoff Jens H, Schwaibold Eva Maria Christina, Cossee Mireille, Imbert-Bouteille Marion, von Pein Harald, Haliloglu Göknur, Topaloglu Haluk, Altmüller Janine, Nürnberg Peter, Thiele Holger, Heller Raoul, Cirak Sebahattin

Abstract excerpt

PURPOSE: Fetal akinesia has multiple clinical subtypes with over 160 gene associations, but the genetic etiology is not yet completely understood. METHODS: In this study, 51 patients from 47 unrelated families were analyzed using next-generation sequencing (NGS) techniques aiming to decipher the genomic landscape of fetal akinesia (FA). RESULTS: We have identified likely pathogenic gene variants in 37 cases and...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Arthrogryposis

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Fetal Diseases

Share to Guanine Nucleotide Exchange Factors

Share to Muscular Diseases

Share to RNA-Binding Proteins

Share to Ryanodine Receptor Calcium Release Channel

Share to Trans-Activators

Source

Identifiers

PMID: 31680123
DOI: 10.1038/s41436-019-0680-1

Genes

IQSEC3
RYR3
ASAH1
ASPM
ATP2B3
EARS2
FBLN1
GCN1
PRG4
PRICKLE1
ROR2
RYR1
SCN5A
SCN8A
SETBP1
TNNT1
ZEB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The genomic and clinical landscape of fetal akinesia.PMID 31680123Read ↗

Genetic diagnosis and clinical evaluation of severe fetal akinesia syndromeSemantic proximity Read ↗

Fetal akinesia: review of the genetics of the neuromuscular causes.Semantic proximity Read ↗

Genetics of neuromuscular fetal akinesia in the genomics era.Semantic proximity Read ↗

The evolving genetic landscape of neuromuscular fetal akinesiasSemantic proximity Read ↗

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.Semantic proximity Read ↗

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthSemantic proximity Read ↗

RAPSN-Related Fetal Akinesia Deformation Sequence with Low-Lying Conus Medullaris: A Case Report and Literature ReviewSemantic proximity Read ↗

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.Semantic proximity Read ↗

Identification ofKLHL40mutations by targeted next-generation sequencing facilitated a prenatal diagnosis in a family with three consecutive affected fetuses with fetal akinesia deformation sequenceSemantic proximity Read ↗

Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.Semantic proximity Read ↗

SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancySemantic proximity Read ↗

An exome sequencing strategy to diagnose lethal autosomal recessive disorders.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.