ArticleHuman molecular genetics2014
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).
Article in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 32 citations in OpenAlex.
- Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3.BMC pediatrics · 2024Article
- Transcription factor ZBTB42 is a novel prognostic factor associated with immune cell infiltration in glioma.Frontiers in pharmacology · 2023Article
- Massive Loss of Transcription Factors Promotes the Initial Diversification of Placental Mammals.International journal of molecular sciences · 2022Article
- Divergent cis-regulatory evolution underlies the convergent loss of sodium channel expression in electric fish.Science advances · 2022Article
- Review
- A Meta-Analysis of Bioelectric Data in Cancer, Embryogenesis, and Regeneration.Bioelectricity · 2021Article
- Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.Annals of neurology · 2020Article
- Distal Arthrogryposis and Lethal Congenital Contracture Syndrome - An Overview.Frontiers in physiology · 2020Review
- Dysregulation of NRAP degradation by KLHL41 contributes to pathophysiology in nemaline myopathy.Human molecular genetics · 2019Article
- Toward clinical and molecular understanding of pathogenic variants in the ZBTB18 gene.Molecular genetics & genomic medicine · 2018Article
- Molecular autopsy in maternal-fetal medicine.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- RNA helicase, DDX27 regulates skeletal muscle growth and regeneration by modulation of translational processes.PLoS genetics · 2018Article
- "Muscling" Throughout Life: Integrating Studies of Muscle Development, Homeostasis, and Disease in Zebrafish.Current topics in developmental biology · 2017Review
- A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding.American journal of human genetics · 2016Article
- Mutations of GPR126 are responsible for severe arthrogryposis multiplex congenita.American journal of human genetics · 2015Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
Lethal congenital contracture syndrome (LCCS) is a lethal autosomal recessive form of arthrogryposis multiplex congenita (AMC). LCCS is genetically heterogeneous with mutations in five genes identified to date, all with a role in the innervation or contractile apparatus of skeletal muscles. In a consanguineous Saudi family with multiple stillbirths presenting with LCCS, we excluded linkage to all known LCCS loci and combined autozygome analysis and whole-exome sequencing to identify a novel homozygous variant in ZBTB42, which had been shown to be enriched in skeletal muscles, especially at the neuromuscular junction. Knockdown experiments of zbtb42 in zebrafish consistently resulted in grossly abnormal skeletal muscle development and myofibrillar disorganization at the microscopic level. This severe muscular phenotype is successfully rescued with overexpression of the human wild-type ZBTB42 gene, but not with the mutant form of ZBTB42 that models the human missense change. Our data assign a novel muscular developmental phenotype to ZBTB42 in vertebrates and establish a new LCCS6 type caused by ZBTB42 mutation.
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