FBN1 exon 2 splicing error in a patient with Marfan syndrome

Autor:	D, Guo, F K, Tan, A, Cantu, S E, Plon, D M, Milewicz
Rok vydání:	2001
Předmět:	Adult Family Health Male Base Sequence Fibrillin-1 DNA Mutational Analysis Microfilament Proteins DNA Exons Fibrillins Marfan Syndrome Pedigree Alternative Splicing Mutation Humans Female Frameshift Mutation
Zdroj:	American journal of medical genetics. 101(2)
ISSN:	0148-7299
Popis:	Mutations in FBN1 cause the autosomal dominant condition, Marfan syndrome. A single-base mutation that results in a skipping of exon 2 of FBN1 was found in a Marfan patient. By sequencing this proband's entire FBN1 gene and comparing the mutated DNA sequence with proband's unaffected family numbers, we confirmed this alteration was the causative mutation. The skipping of exon 2 creates a frameshift and premature termination codon, and forms a truncated fibrillin-1 composed only of 55 amino acids of N-terminus plus 45 nonsense amino acids. The mRNA transcription levels of the mutated FBN1 allele and the deposition of fibrillin-1 into extracellular matrix in fibroblast cells culture were assessed.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::645438a2777d59c32cc8b7184b7925f9 https://pubmed.ncbi.nlm.nih.gov/11391655 Zobrazit plný text záznamu Plný text