NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations Lynette A. Gillis, Jennifer.

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NIPBL Mutational Analysis in 120 Individuals with Cornelia de Lange Syndrome and Evaluation of Genotype-Phenotype Correlations Lynette A. Gillis, Jennifer McCallum, Maninder Kaur, Cheryl DeScipio, Dinah Yaeger, Allison Mariani, Antonie D. Kline, Hui-hua Li, Marcella Devoto, Laird G. Jackson, Ian D. Krantz The American Journal of Human Genetics Volume 75, Issue 4, Pages 610-623 (October 2004) DOI: 10.1086/424698 Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 1 Facial features and limb findings in mutation-positive individuals with CdLS. Note the variability of features even among individuals with similar mutation types. The American Journal of Human Genetics 2004 75, 610-623DOI: (10.1086/424698) Copyright © 2004 The American Society of Human Genetics Terms and Conditions

Figure 2 Evolutionary conservation of amino acid residues altered by missense mutations in NIPBL. A comparison of amino acids and the flanking sequence altered by 11 of the unique missense mutations in human (NIPBL), rat, mouse, and Drosophila is depicted. The mutated amino acid residue is shaded gray. Amino acid residue 2298 was mutated in three individuals—two had an R2298H change, and one had an R2298C change. The missense mutation M1K in the initiation codon is not depicted, since it is conserved in all species. The American Journal of Human Genetics 2004 75, 610-623DOI: (10.1086/424698) Copyright © 2004 The American Society of Human Genetics Terms and Conditions