RGD Reference Report - Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence. - Rat Genome Database

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Marfan syndrome caused by a mutation in FBN1 that gives rise to cryptic splicing and a 33 nucleotide insertion in the coding sequence.

Authors: Hutchinson, S  Wordsworth, BP  Handford, PA 
Citation: Hutchinson S, etal., Hum Genet 2001 Oct;109(4):416-20.
RGD ID: 1300361
Pubmed: PMID:11702223   (View Abstract at PubMed)
DOI: DOI:10.1007/s004390100573   (Journal Full-text)

We have studied a patient with Marfan syndrome whose mutation was not detected by heteroduplex analysis. Primary cultured patient fibroblasts were metabolically labelled and found to secrete fibrillin-1 defectively when compared with an age-matched control. Sequencing of patient cDNA, isolated by reverse transcription-polymerase chain reaction of patient fibroblast RNA, detected a 33-bp insertion. The reading frame of the mutant allele was maintained and predicted the insertion of 11 amino acids at the beginning of calcium-binding epidermal growth factor-like domain 29. Direct sequencing of genomic DNA detected a heterozygous G+1-->A transversion in intron 46 of FBN1. The 11 amino acid insertion was the consequence of the usage of a cryptic splice site 33-bp downstream of the mutation. This is the first reported case of a splicing defect in FBN1 leading to the production of a full-length fibrillin-1 transcript containing a large amino acid insertion.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Marfan syndrome  IAGP 1300361 RGD 
Marfan syndrome  ISOFBN1 (Homo sapiens)1300361; 1300361 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Fbn1  (fibrillin 1)

Genes (Mus musculus)
Fbn1  (fibrillin 1)

Genes (Homo sapiens)
FBN1  (fibrillin 1)


Additional Information