A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis

Dina Ahram, T. Shawn Sato, Abdulghni Kohilan, Marwan Tayeh, Shan Chen, Suzanne Leal, Mahmoud Al-Salem, Hatem El-Shanti

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Ectopia lentis is a genetically heterogeneous condition that is characterized by the subluxation of the lens resulting from the disruption of the zonular fibers. Patients with ectopia lentis commonly present with a marked loss in visual acuity in addition to a number of possibly accompanying ocular complications including cataract, myopia, and retinal detachment. We here describe an isolated form of ectopia lentis in a large inbred family that shows autosomal-recessive inheritance. We map the ectopia lentis locus in this family to the pericentromeric region on chromosome 1 (1p13.2-q21.1). The linkage region contains well more than 60 genes. Mutation screening of four candidate genes revealed a homozygous nonsense mutation in exon 11 of ADAMTSL4 (p.Y595X; c.1785T→G) in all affected individuals that is absent in 380 control chromosomes. The mutation would result in a truncated protein of half the original length, if the mRNA escapes nonsense-mediated decay.We conclude that mutations in ADAMTSL4 are responsible for autosomal-recessive simple ectopia lentis and that ADAMTS-like4 plays a role in the development and/or integrity of the zonular fibers.

Original languageEnglish
Pages (from-to)274-278
Number of pages5
JournalAmerican Journal of Human Genetics
Issue number2
Publication statusPublished - 8 Aug 2008


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Ahram, D., Sato, T. S., Kohilan, A., Tayeh, M., Chen, S., Leal, S., Al-Salem, M., & El-Shanti, H. (2008). A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. American Journal of Human Genetics, 84(2), 274-278. https://doi.org/10.1016/j.ajhg.2009.01.007