ArticleHuman molecular genetics2014
Respiratory failure, cleft palate and epilepsy in the mouse model of human Xq22.1 deletion syndrome.
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 8 papers.
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Who cites it
8 citing papers in PubMed, 14 citations in OpenAlex.
- Maternal behaviours disrupted by Gprasp2 deletion modulate neurodevelopmental trajectory in progeny.Scientific reports · 2024Article
- Identification of Immune Cells and Key Genes associated with Alzheimer's Disease.International journal of medical sciences · 2022Article
- The Role of EZH2 Inhibitor, GSK-126, in Seizure Susceptibility.Journal of molecular neuroscience : MN · 2021Article
- ARMC Subfamily: Structures, Functions, Evolutions, Interactions, and Diseases.Frontiers in molecular biosciences · 2021Review
- GPRASP proteins are critical negative regulators of hematopoietic stem cell transplantation.Blood · 2020Article
- Abnormal mGluR-mediated synaptic plasticity and autism-like behaviours in Gprasp2 mutant mice.Nature communications · 2019Article
- Creation of mutant mice with megabase-sized deletions containing custom-designed breakpoints by means of the CRISPR/Cas9 system.Scientific reports · 2017Article
- Missing Links Between Genetically Inherited Molecules in Split Cord Malformation and Other Anomaly: A Bench to Bedside Approach.Journal of pediatric neurosciencesArticle
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Chromosomal segmental deletion is a frequent cause of human diseases. A familial 1.1 Mb deletion of human chromosome Xq22.1 associates with epilepsy, cleft palate and developmental defects in heterozygous female patients. Here, we describe a mouse mutant with a targeted deletion of the syntenic segment of the mouse X chromosome that phenocopies the human syndrome. Male mice with a deletion of a 1.1 Mb Nxf2-Nxf3 X-chromosomal segment exhibit respiratory failure, neonatal lethality and cleft palate. In female mice, heterozygosity for the deletion manifests cleft palate, early postnatal lethality, postnatal growth delay and spontaneous seizures in surviving animals, apparently due to X-chromosome inactivation. Furthermore, loss of a 0.35 Mb subregion containing Armcx5, Gprasp1, Gprasp2 and Bhlhb9 is sufficient to cause the Xq22.1 syndrome phenotype. Our results support that the 1.1 Mb deletion of human Xq22.1 is the genetic cause of the associated syndrome.
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