Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4691903 | PMC |
| http://dx.doi.org/10.1136/bcr-2015-212949 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Etiology of craniofacial and cardiac malformations in a mouse model of -related syndromes.
Proc Natl Acad Sci U S A
September 2024
Department of Human Genetics, McGill University, Montreal, QC H3A 0G1, Canada.
Article Synopsis
- * Mutant mouse models with SF3B4 deletion in neural crest cells demonstrated similar abnormalities, with variations in severity that depended on neighboring non-neural crest cell factors.
- * RNA sequencing revealed significant expression changes in genes regulating neural crest cell functions and increased exon skipping, suggesting that reduced SF3B4 impacts splicing and expression of crucial transcripts, resulting in developmental defects.
Transcriptomic analysis reveals mitochondrial dysfunction in the pathogenesis of Nager syndrome in sf3b4-depleted zebrafish.
Biochim Biophys Acta Mol Basis Dis
April 2024
Laboratory of Developmental Disorders and Toxicology, Center for Promotion of International Education and Research, Faculty of Agriculture, Kyushu University, Fukuoka, Japan. Electronic address:
Nager syndrome (NS) is a rare acrofacial dysostosis caused by heterozygous loss-of-function variants in the splicing factor 3B subunit 4 (SF3B4). The main clinical features of patients with NS are characterized by facial-mandibular and preaxial limb malformations. The migration and specification of neural crest cells are crucial for craniofacial development, and mitochondrial fitness appears to play a role in such processes.
View Article and Find Full Text PDFChildren with Rare Nager Syndrome-Literature Review, Clinical and Physiotherapeutic Management.
Genes (Basel)
December 2023
Head and Neck Surgery Clinic for Children and Young Adults, Department of Clinical Pediatrics, Collegium Medicum, University of Warmia and Mazury, 10-561 Olsztyn, Poland.
Nager syndrome is a rare human developmental disorder characterized by craniofacial defects including the downward slanting of the palpebral fissures, cleft palate, limb deformities, mandibular hypoplasia, hypoplasia or absence of thumbs, microretrognathia, and ankylosis of the temporomandibular joint. The prevalence is very rare and the literature describes only about a hundred cases of Nager syndrome. There is evidence of autosomal dominant and autosomal recessive inheritance for Nager syndrome, suggesting genetic heterogeneity.
View Article and Find Full Text PDFFirst case report of Nager syndrome patient from Georgia.
SAGE Open Med Case Rep
December 2022
Tbilisi State Medical University, Tbilisi, Georgia.
Nager syndrome (MIM #154400) is a rare acrofacial dysostosis syndrome predominantly characterized by malformations in craniofacial and preaxial limb bones. Most cases are sporadic and present with significant clinical heterogeneity. Although autosomal recessive and autosomal dominant modes of inheritance have been reported, most cases of Nager syndrome are spontaneous.
View Article and Find Full Text PDFFrameshift Variants Represented a More Severe Clinical Manifestation in Nager Syndrome.
Cleft Palate Craniofac J
August 2023
Laboratory of Developmental Disorders and Toxicology, Center for Promotion of International Education and Research, Faculty of Agriculture, Kyushu University, Fukuoka, Japan.
Nager syndrome (NS) is a rare disease marked with craniofacial and preaxial limb anomalies. In this report, we summarized the current evidence to determine a possible genotype-phenotype association among NS individuals. Twenty-four articles comprising of 84 NS (including 9 patients with a severe form of NS [Rodriguez syndrome]) patients were examined, of which 76% were caused by variants in (OMIM *605593, Splicing Factor 3B, Subunit 4).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!