A Novel S115G Mutation of CGI-58 in a Turkish Patient with Dorfman–Chanarin Syndrome Zied Ben Selma, Sebnem Yilmaz, Pierre Olivier Schischmanoff, Astrid.

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A Novel S115G Mutation of CGI-58 in a Turkish Patient with Dorfman–Chanarin Syndrome Zied Ben Selma, Sebnem Yilmaz, Pierre Olivier Schischmanoff, Astrid Blom, Candan Ozogul, Liliane Laroche, Frédéric Caux Journal of Investigative Dermatology Volume 127, Issue 9, Pages 2273-2276 (September 2007) DOI: 10.1038/sj.jid.5700860 Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Lipid vacuoles in granulocytes and keratinocytes and CGI-58 mutation in the DCS patient. (a) Peripheral blood smear revealed cytoplasmic lipid droplets (arrow) in granulocytes (Jordans’ anomaly). Bar=2.5μm. (b) Ultrastructural analysis of skin biopsy demonstrated lipid droplets devoid of membrane in keratinocytes. Bar=2μm. (c) Sequence analysis of CGI-58 revealed a homozygous missense mutation (343A>G in exon 3 leading to S115G) in the patient, a heterozygous mutation in both parents, and a normal sequence in a sister (sequencing of the reverse strand; GenBank™ accession numbers: AF151816). Journal of Investigative Dermatology 2007 127, 2273-2276DOI: (10.1038/sj.jid.5700860) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Consequences of the CGI-58 mutation on splicing and secondary structure and sequence alignments around serine 115. (a) In silico analysis of the 343A>G transition showed an increase of the Ri value from 0.8 to 3.9, predicting the appearance of a cryptic splice site one nucleotide after the mutation (https://splice.cmh.edu). (b) RT-PCR using the forward primer from exon 3 (nucleotides 246–265) and the reverse primers from exon 3 (nucleotides 443–462) (lanes 1 and 2) and from exon 6 (nucleotides 922–941) (lanes 3 and 4) produced respectively a 217-bp and a 696-bp fragments, which were similar in the patient (lanes 2 and 4) and in a control (lanes 1 and 3). Molecular weight markers were in lane 5. (c) In silico analysis of the conversion of serine 115 to glycine (arrow) predicted a structural change (arrowhead) of leucine 110 from coil (_) to sheet (E) (http://bioweb.pasteur.fr). H designated helix structure. Journal of Investigative Dermatology 2007 127, 2273-2276DOI: (10.1038/sj.jid.5700860) Copyright © 2007 The Society for Investigative Dermatology, Inc Terms and Conditions