ArticleAmerican journal of human genetics2014
Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 72 citations in OpenAlex.
- Skipping the Biopsy: Real-World Experience of Whole-Exome Sequencing as First-Tier Testing in Pediatric Muscular Disorders.International journal of molecular sciences · 2026Article
- Analyzing the global burden of 11 subtypes of congenital birth defects: trends, sociodemographic correlates, and outcomes from 1990 to 2021.Annals of medicine · 2025Article
- Thalidomide-induced limb malformations: an update and reevaluation.Archives of toxicology · 2025Review
- Control of striatal circuit development by the chromatin regulatorScience advances · 2025Article
- Entry of ZSWIM4 to the nucleus is crucial for its inhibition of KIT and BMAL1 in gastrointestinal stromal tumors.Cell & bioscience · 2024Article
- Prenatal and Postnatal Diagnosis and Genetic Background of Corpus Callosum Malformations and Neonatal Follow-Up.Children (Basel, Switzerland) · 2024Article
- Analysis of SMAD1/5 target genes in a sea anemone reveals ZSWIM4-6 as a novel BMP signaling modulator.eLife · 2024Article
- A Case of NEDMAGA: Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features.Movement disorders clinical practice · 2024Article
- Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.Genes · 2021Article
- Prenatal Diagnosis of Acromelic Frontonasal Dysostosis.Molecular syndromology · 2021Article
- The power of zebrafish models for understanding the co-occurrence of craniofacial and limb disorders.Genesis (New York, N.Y. : 2000) · 2021Review
- Developmental Characterization of Schizophrenia-Associated Gene Zswim6 in Mouse Forebrain.Frontiers in neuroanatomy · 2021Article
- An Asymmetric Genetic Signal Associated with Mechanosensory Expansion in Cave-Adapted Fish.Symmetry · 2020Article
- ALX1-related frontonasal dysplasia results from defective neural crest cell development and migration.EMBO molecular medicine · 2020Article
- Gene4Denovo: an integrated database and analytic platform for de novo mutations in humans.Nucleic acids research · 2020Article
- Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome.Journal of human genetics · 2019Article
- Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial Development.Journal of dental research · 2019Article
- Genetics of the patella.European journal of human genetics : EJHG · 2019Review
- A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.American journal of human genetics · 2017Article
- Mllt10 knockout mouse model reveals critical role of Af10-dependent H3K79 methylation in midfacial development.Scientific reports · 2017Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
Acromelic frontonasal dysostosis (AFND) is a rare disorder characterized by distinct craniofacial, brain, and limb malformations, including frontonasal dysplasia, interhemispheric lipoma, agenesis of the corpus callosum, tibial hemimelia, preaxial polydactyly of the feet, and intellectual disability. Exome sequencing of one trio and two unrelated probands revealed the same heterozygous variant (c.3487C>T [p. Arg1163Trp]) in a highly conserved protein domain of ZSWIM6; this variant has not been seen in the 1000 Genomes data, dbSNP, or the Exome Sequencing Project. Sanger validation of the three trios confirmed that the variant was de novo and was also present in a fourth isolated proband. In situ hybridization of early zebrafish embryos at 24 hr postfertilization (hpf) demonstrated telencephalic expression of zswim6 and onset of midbrain, hindbrain, and retinal expression at 48 hpf. Immunohistochemistry of later-stage mouse embryos demonstrated tissue-specific expression in the derivatives of all three germ layers. qRT-PCR expression analysis of osteoblast and fibroblast cell lines available from two probands was suggestive of Hedgehog pathway activation, indicating that the ZSWIM6 mutation associated with AFND may lead to the craniofacial, brain and limb malformations through the disruption of Hedgehog signaling.
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