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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.

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Presentation on theme: "A Homozygous Mutation in ADAMTSL4 Causes Autosomal-Recessive Isolated Ectopia Lentis  Dina Ahram, T. Shawn Sato, Abdulghani Kohilan, Marwan Tayeh, Shan."— Presentation transcript:

1 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 (February 2009) DOI: /j.ajhg Copyright © 2009 The American Society of Human Genetics Terms and Conditions

2 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  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

3 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  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

4 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  , DOI: ( /j.ajhg ) Copyright © 2009 The American Society of Human Genetics Terms and Conditions

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