Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome Caroline Lefèvre, Florence.

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Mutations in CGI-58, the Gene Encoding a New Protein of the Esterase/Lipase/Thioesterase Subfamily, in Chanarin-Dorfman Syndrome Caroline Lefèvre, Florence Jobard, Frédéric Caux, Bakar Bouadjar, Aysen Karaduman, Roland Heilig, Hakima Lakhdar, Andreas Wollenberg, Jean-Luc Verret, Jean Weissenbach, Meral Özgüc, Mark Lathrop, Jean-François Prud'homme, Judith Fischer The American Journal of Human Genetics Volume 69, Issue 5, Pages 1002-1012 (November 2001) DOI: 10.1086/324121 Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 1 A, Patient B3 at age 14 years, exhibiting typical phenotype of NCIE, with fine white scaling on erythrodermal background. B, Patient B8.2 at age 8 years, exhibiting small ears and abnormal pattern of hair distribution. The American Journal of Human Genetics 2001 69, 1002-1012DOI: (10.1086/324121) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 2 Common haplotypes in families from Tunisia (TN), Algeria (AL), Morocco (MO), Turkey (TR), and France (FR). Loss of homozygosity in family B4 is indicated by boxes. Bases are numbered beginning with the ATG initiation codon in exon 1 (A is at position 46 in cDNA sequence). Sequences for CNG (Centre National de Génotypage) microsatellite primers are available on request or from the Centre National de Génotypage website. The American Journal of Human Genetics 2001 69, 1002-1012DOI: (10.1086/324121) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 3 CGI-58 mutations in three patients with CDS and in their heterozygous parents. A, Mutation in acceptor splice site of exon 6. B, Point mutation at nucleotide 389, changing glutamine at position 130 to proline. C, Deletion of 2 bp at nucleotides 46/47, leading to frameshift and to premature stop codon at position 35. Arrowheads indicate the positions of the mutations. The American Journal of Human Genetics 2001 69, 1002-1012DOI: (10.1086/324121) Copyright © 2001 The American Society of Human Genetics Terms and Conditions

Figure 4 RT-PCR of cultured lymphoblastoid cell lines from three patients and from their heterozygous parents. Patient B2 has a homozygous splice-site mutation, which reduces the size of the mRNA fragment. Both normal and altered mRNA fragments are detected in the heterozygous parent. The size of the normal mRNA fragment is 997 bp. The American Journal of Human Genetics 2001 69, 1002-1012DOI: (10.1086/324121) Copyright © 2001 The American Society of Human Genetics Terms and Conditions