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Xiaomin Zhou, Wenhan Yu, Naihong Yan, Lin Zhao, Yun Wang, Xuyang Liu; New Compound Heterozygous Mutations in ADAMTSL4 Cause Autosomal-Recessive Isolated Bilateral Ectopia Lentis. Invest. Ophthalmol. Vis. Sci. 2012;53(14):1725.
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To analyze the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) like-4 gene in a Chinese pedigree with Ectopia lentis (EL).
In this two-generation family, four members out of seven of the 2nd generation were affected while those of 1st generation were normal. Complete ophthalmologic examinations of all members were conducted. The coding regions and flanking sequences of human ADAMTSL4 gene were amplified by polymerase chain reaction (PCR), sequenced and compared with reference database.
New compound heterozygote mutations in the ADAMTSL4 gene were identified in this family. An insertion mutation (c.1784insT) in exon 11 and a missense mutation (c.594 G>A, p.R865H) in exon 16, both of which were respectively inherited from the patient’s unaffected parents, contributed to this disease.
A new compound heterozygote mutations of ADAMTSL4 was identified in this IEL family, indicating ADAMTSL4 may play an important role in the development and/or integrity of the zonular fibers.
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