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H. Dollfus, V. Bennouna Greene, V. Marion, V. Pelletier, C. Stoetzel; Confirmation of ADAMTSL4 Mutations for Autosomal Recessive Isolated Bilateral Ectopia Lentis. Invest. Ophthalmol. Vis. Sci. 2010;51(13):3079. doi: https://doi.org/.
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Ectopia lentis (EL) is a zonular disease where stretching of the zonular fibers leads to lens dislocation. It is most often associated with systemic diseases such as Marfan syndrome (MFS). Isolated "simple" ectopia lentis (IEL) is reported in families with autosomal inheritance, with dominant forms being more common than recessive. Recently, two genes have been described to be responsible for autosomal recessive ectopia lentis: LTBP2 where EL is associated with other ocular feature and ADAMTSL4 shown to be responsible for the isolated autosomal recessive ectopia lentis by mapping in an inbred family (Ahram D et al, 2009). We analyze a consanguineous family with 2 male children that had isolated EL.
DNA analysis was first performed with microsatellite markers in order to search for homozygosity at a given EL locus for both children. Sequencing was performed by way of the Millipore Multiscreen HTS PCR96 purification of PCR products and sequenced with ABI PRISM ® 3100 automated sequencer.
The segregation with informative microsatellite marker D1S498 for the ADAMTSL4 locus indicated that this gene could be responsible for the recessive affection in this family as confirmed by the fact that the brothers carry a homozygous splice mutation IVS4-1G>A/IVS4-1G>A in ADAMTSL4.
The identification of a homozygous mutation in the ADAMTSL4 gene in this family with EL is the second report in the literature and confirms the involvement of this gene encoding for a member of the ADAMTS superfamily known to participate in cell-cell or cell-matrix interactions and regulation of the ADAMTS proteases.
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