Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral Ectopia Lentis

Ectopia lentis (EL) is a zonular disease where alteration of the zonular fibers leads progressively to lens dislocation. It is most often associated with systemic diseases such as Marfan syndrome, Weill-Marchesani syndrome or homocystinuria. Isolated non syndromic ectopia lentis (IEL) is reported in...

Full description

Saved in:
Bibliographic Details
Published in:Ophthalmic genetics 2010-03, Vol.31 (1), p.47-51
Main Authors: Greene, V. Bennouna, Stoetzel, C., Pelletier, V., Perdomo-Trujillo, Y., Liebermann, L., Marion, V., De Korvin, H., Boileau, C., Dufier, J.L., Dollfus, H.
Format: Article
Language:English
Subjects:
ADAMTS Proteins
ADAMTSL4
Aphakia, Postcataract - etiology
Aphakia, Postcataract - therapy
Autosomal recessive
Child, Preschool
Codon, Nonsense
Consanguinity
DNA Mutational Analysis
Ectopia lentis
Ectopia Lentis - genetics
Eyeglasses
Functional Laterality
Genes, Recessive
Humans
Lens, Crystalline - surgery
Male
Microsatellite Repeats
Non syndromic
Pedigree
Polymerase Chain Reaction
RNA, Messenger - analysis
Thrombospondins - genetics
Visual Acuity
Zonula fibers
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Ectopia lentis (EL) is a zonular disease where alteration of the zonular fibers leads progressively to lens dislocation. It is most often associated with systemic diseases such as Marfan syndrome, Weill-Marchesani syndrome or homocystinuria. Isolated non syndromic ectopia lentis (IEL) is reported in families with autosomal inheritance, with dominant forms being more common than recessive. LTBP2 truncating mutations have been described as a cause of autosomal recessive ectopia lentis as a primary or secondary feature in patients showing ocular (eg, glaucoma) or extraocular manifestations (eg, Marfanoid habitus). Recently, ADAMTSL4 has been shown to be responsible for isolated autosomal recessive ectopia lentis in an inbred family. Herein we show a consanguineous family that carries a novel homozygous splice mutation IVS4-1G>A/IVS4-1G>A in ADAMTSL4 responsible for isolated autosomal recessive EL, thus confirming the involvement of this gene in this condition and underlining the major role of ADAMTS proteases in zonular fibers homeostasis.
ISSN:1381-6810
1744-5094
DOI:10.3109/13816810903567604