Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis Arthur Sorlin, Annabel Maruani, Marie-Hélène Aubriot-Lorton, Paul Kuentz, Yannis.

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Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis Arthur Sorlin, Annabel Maruani, Marie-Hélène Aubriot-Lorton, Paul Kuentz, Yannis Duffourd, Sandra Teysseire, Virginie Carmignac, Judith St-Onge, Martin Chevarin, Thibaud Jouan, Christel Thauvin-Robinet, Julien Thevenon, Laurence Faivre, Jean-Baptiste Rivière, Pierre Vabres Journal of Investigative Dermatology Volume 137, Issue 7, Pages 1575-1578 (July 2017) DOI: 10.1016/j.jid.2017.01.035 Copyright © 2017 The Authors Terms and Conditions

Figure 1 Clinical presentation and immunostaining studies. (a–c) Proband aged 6 years: mottled and linear hyperpigmentation on the limbs and abdomen. (d–f) Immunostaining of skin sections from the proband at age 1 month, showing (d) increased epidermal nuclear and cytoplasmic expression of KITLG (SCF) in basal and spinous keratinocytes (anti-SCF C19H6 polyclonal antibody specific for the liaison domain, dilution 1/800), (e) increased epidermal cytoplasmic C-KIT (CD117) expression in basal and suprabasal keratinocytes (dilution 1/500), and (f) increase in melanocytes in the basal epidermal layer (HMB45 staining, dilution 1/500). (g–h) Control immunostaining from a control with cutaneous mastocytosis aged 2 years: (g) KITLG expression in dermal mast cell infiltrate with faint cytoplasmic expression in basal keratinocytes (dilution 1/400), (h) C-KIT expression in dermal mast cells and epidermal dendritic melanocytes; absent expression in keratinocytes (dilution 1/500), and (i) HMB45 staining in control sample. Scale bar = 100 μm. Journal of Investigative Dermatology 2017 137, 1575-1578DOI: (10.1016/j.jid.2017.01.035) Copyright © 2017 The Authors Terms and Conditions

Figure 2 Integrative Genomics Viewer (Broad Institute, Cambridge, MA) screenshot of whole-exome sequencing for KITLG variant and summary of all known KITLG mutations in human disorders. (a) KITLG c.329A>G (p.Asp110Gly) variant was present in 28% of reads in the proband’s skin and absent in parents’ blood. (b) Genomic structure of KITLG. Membrane-bound and soluble KITLG isoforms result from alternative splicing of exon 6, which contains a cleavage site (red line). Protein domains: AA 1–25 (black), signal peptide; 26–214 (grey), extracellular domain; 215–237 (black), transmembrane domain; 238–273 (grey), cytoplasmic domain. (c) KITLG p.Asp110Gly variant (red) and sKITLG domain mutations identified in FPHH (top) and nonsyndromic unilateral and asymmetric hearing loss/Waardenburg Syndrome type 2 (bottom), localized near KIT-binding sites (black) (Yuzawa et al., 2007). FPHH, familial progressive hyper- and hypopigmentation. Journal of Investigative Dermatology 2017 137, 1575-1578DOI: (10.1016/j.jid.2017.01.035) Copyright © 2017 The Authors Terms and Conditions