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Neonatal Marfan syndrome: a case report of a novel fibrillin 1 mutation, with genotype-phenotype correlation and brief review of the literature.
Ital J Pediatr
September 2024
Neonatal Intensive Care Unit, "Bambino Gesù" Children's Hospital IRCCS, Rome, 00165, Italy.
Background: Neonatal Marfan syndrome (nMFS) is a rare condition characterized by severe phenotype and poor prognosis. nMFS is caused by mutations in a specific region of the fibrillin 1 gene (FBN1). Prompt recognition of typical signs of neonatal presentation, such as characteristic facial anomalies with senile appearance, arthrogryposis, and campto-arachnodactyly, is fundamental for performing an early cardiological examination.
View Article and Find Full Text PDFHigh-Throughput Genomics Identify Novel Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.
Int J Mol Sci
May 2024
Neonatal Congenital Heart Laboratory, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA 90095, USA.
Fibrillin-1 and fibrillin-2, encoded by and , respectively, play significant roles in elastic fiber assembly, with pathogenic variants causing a diverse group of connective tissue disorders such as Marfan syndrome (MFS) and congenital contractural arachnodactyly (CCD). Different genomic variations may lead to heterogeneous phenotypic features and functional consequences. Recent high-throughput sequencing modalities have allowed detection of novel variants that may guide the care for patients and inform the genetic counseling for their families.
View Article and Find Full Text PDFFBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations.
Connect Tissue Res
May 2024
Division of Cardiology, Departments of Internal Medicine and Genetic Diagnosis Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Article Synopsis
- Congenital contractural arachnodactyly (CCA) is a rare genetic disorder linked to mutations in the FBN2 gene, presenting symptoms like arachnodactyly and joint contractures but typically lacks severe heart issues found in similar disorders like Marfan syndrome.
- A new splice-altering variant (c.4472-3C>A) was discovered in the FBN2 gene through advanced genetic sequencing, affecting how the gene's RNA is processed and leading to significant changes in the protein it encodes.
- The study highlights specific regions of the FBN2 gene that may lead to serious cardiovascular concerns, suggesting that patients with these mutations should undergo thorough heart evaluations.
EFEMP1 haploinsufficiency causes a Marfan-like hereditary connective tissue disorder.
Am J Med Genet A
June 2024
Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.
Article Synopsis
- The study describes a hereditary connective tissue disorder characterized by features like hyperextensible skin, joint laxity, and specific craniofacial characteristics linked to mutations in the EFEMP1 gene.
- Genome sequencing revealed that both the proband and her mother carried a specific stop-gain mutation, leading to significantly reduced levels of the EFEMP1 transcript in their fibroblasts.
- The findings highlight the role of EFEMP1 haploinsufficiency due to nonsense-mediated decay in causing severe symptoms, marking the first report of an autosomal dominant disorder associated with this gene and expanding the understanding of related conditions.
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