RGD Reference Report - Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome. - Rat Genome Database

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Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome.

Authors: Micheal, Shazia  Khan, Muhammad Imran  Akhtar, Farah  Weiss, Marjan M  Islam, Farah  Ali, Mehmood  Qamar, Raheel  Maugeri, Alessandra  den Hollander, Anneke I 
Citation: Micheal S, etal., Mol Vis. 2012;18:1918-26. Epub 2012 Jul 18.
RGD ID: 12910131
Pubmed: PMID:22876116   (View Abstract at PubMed)
PMCID: PMC3413445   (View Article at PubMed Central)


PURPOSE: To describe a novel mutation in the fibrillin-1 (FBN1) gene in a large Pakistani family with autosomal dominant Marfan syndrome (MFS).
METHODS: Blood samples were collected of 11 family members affected with Marfan syndrome, and DNA was isolated by phenol-extraction. The coding exons of FBN1 were analyzed by polymerase chain reaction (PCR) and direct sequencing. One hundred-thirty controls were screened for a mutation in the FBN1 gene that was identified in this family by restriction fragment length polymorphism (RFLP) analysis.
RESULTS: A novel heterozygous missense mutation c.2368T>A; p.Cys790Ser was observed in exon 19. This mutation substitutes a highly conserved cysteine residue by serine in a calcium binding epidermal growth factor-like domain (cbEGF) of FBN1. This mutation was present in all affected members and absent from unaffected individuals of the family in addition to 130 healthy Pakistani controls. Interestingly all affected family members presented with ectopia lentis, myopia and glaucoma, but lacked the cardinal cardiovascular features of MFS.
CONCLUSIONS: This is a first report of a mutation in FBN1 in MFS patients of Pakistani origin. The identification of a FBN1 mutation in this family confirms the diagnosis of MFS patients and expands the worldwide spectrum of FBN1 mutations.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Marfan syndrome  IAGP 12910131DNA:missense mutation:exon:p.C790S (c.2368T>A) (human)RGD 
Marfan syndrome  ISOFBN1 (Homo sapiens)12910131; 12910131DNA:missense mutation:exon:p.C790S (c.2368T>A) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Ectopia lentis  IAGP 12910131DNA:missense mutation:exon:p.C790S (c.2368T>A) RGD 
Glaucoma  IAGP 12910131DNA:missense mutation:exon:p.C790S (c.2368T>A) RGD 
Myopia  IAGP 12910131DNA:missense mutation:exon:p.C790S (c.2368T>A) RGD 
Objects Annotated

Genes (Rattus norvegicus)
Fbn1  (fibrillin 1)

Genes (Mus musculus)
Fbn1  (fibrillin 1)

Genes (Homo sapiens)
FBN1  (fibrillin 1)


Additional Information