A Homozygous Mutation in ADAMTSL4 Causes Autosomal-Recessive Isolated Ectopia Lentis Dina Ahram, T. Shawn Sato, Abdulghani Kohilan, Marwan Tayeh, Shan.

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A Homozygous Mutation in ADAMTSL4 Causes Autosomal-Recessive Isolated Ectopia Lentis Dina Ahram, T. Shawn Sato, Abdulghani Kohilan, Marwan Tayeh, Shan Chen, Suzanne Leal, Mahmoud Al-Salem, Hatem El-Shanti The American Journal of Human Genetics Volume 84, Issue 2, Pages 274-278 (February 2009) DOI: 10.1016/j.ajhg.2009.01.007 Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 1 The Family Pedigree, Haplotype, and ADAMTSL4 Mutation (A) Reduced pedigree of the family showing only participating members and their immediate relatives. The genotypes of eight microsatellite markers are shown with the arrows pointing to the crossover events that delineate the region of linkage. (B) Sequence chromatograph showing the T→G transversion producing a premature stop codon TAG. The American Journal of Human Genetics 2009 84, 274-278DOI: (10.1016/j.ajhg.2009.01.007) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 2 Expression of ADAMTSL4 in cDNA The top panel shows expression in the cDNA libraries from adult human tissues, whereas the bottom panel shows expression in fetal tissues. The 340 bp fragment detects the two major reported isoforms (a and b) whereas the 481bp fragment detects only isoform a (full length). The American Journal of Human Genetics 2009 84, 274-278DOI: (10.1016/j.ajhg.2009.01.007) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

Figure 3 Diagram of ADAMTSL4 and Its Isoforms Diagramatic presentation of ADAMTSL4, ADAMTSL4 and its two isoforms a (full length) and b. The protein domains are shown, as well as the position of the identified mutation that is present in the two major isoforms. Isoform b lacks three TSP1 domains and the PLAC domain. The American Journal of Human Genetics 2009 84, 274-278DOI: (10.1016/j.ajhg.2009.01.007) Copyright © 2009 The American Society of Human Genetics Terms and Conditions