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GENATLAS PHENOTYPE
last update : 11/07/2006
Symbol ECTL
Location 15q21.1
Name ectopia lentis, isolated
Other name(s) ectopia lentis, familial
Corresponding gene FBN1
Main clinical features
  • allelic to MFS1, with or without minor skeletal changes
    • Genetic determination autosomal dominant
    Function/system disorder connective tissue
    eye
    Type disease
    Gene product
    Name fibrillin (FBN1)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     mutations clustered in the first 15 exons of the gene
    missense     mutation 184C>T in exon 2, in a Chinese family