1. KITLG Mutations Cause Familial Progressive Hyper- and Hypopigmentation
Mustapha Amyere, Thomas Vogt, Joe Hoo, Flemming Brandrup, Anette Bygum, Laurence Boon, Miikka Vikkula 
Journal of Investigative Dermatology 
Volume 131, Issue 6, Pages (June 2011)
DOI: /jid
Copyright © 2011 The Society for Investigative Dermatology, Inc Terms and Conditions

2. Figure 1
Familial progressive hyper- and hypopigmentation in seven families. Five families (A–E) from southeastern Germany; family F, USA; family G, Denmark. Numbered individuals included in whole-genome mapping. Black symbols, familial progressive hyper- and hypopigmentation.
Journal of Investigative Dermatology  , DOI: ( /jid )
Copyright © 2011 The Society for Investigative Dermatology, Inc Terms and Conditions

3. Figure 2
Clinical features of family G. (a) Boy, 11 years of age, with general hyperpigmentation, accentuated in the neck, with scattered café-au-lait macules, lentigines, and small hypopigmented spots. (b) Male, 43 years of age, with vitiligo as a rim in the periphery of a dark brown macule at the inner aspect of left knee.
Journal of Investigative Dermatology  , DOI: ( /jid )
Copyright © 2011 The Society for Investigative Dermatology, Inc Terms and Conditions

4. Figure 3
Multipoint linkage analysis on three familial progressive hyper- and hypopigmentation families. (a) Combined pedigree for families A+B considering closest possible common ancestor; (b) z-score plots for families A+B (locus: ( – ); (c, d) family F (locus: ( – ) and family G (locus: ( – ). X axis, physical position on 12q in megabases (Mb); y axis, nonparametric z-score. Whole-genome scan using Affymetrix 10K arrays (families A+B) and 250K arrays for families F and G.
Journal of Investigative Dermatology  , DOI: ( /jid )
Copyright © 2011 The Society for Investigative Dermatology, Inc Terms and Conditions

5. Figure 4
Mutations found in KITLG. Mutations c.98T>C and c.100A>C, resulting in substitutions of p.Val33Ala and p.Thr34Pro in families F and G, respectively. In families A and B, c.107A>G substitution resulting in p.Asn36Ser change. N, position of mutation.
Journal of Investigative Dermatology  , DOI: ( /jid )
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6. Figure 5
KITLG signalling pathway in melanogenesis and its role on skin pigmentation. DUH2, Dyschromatosis Universalis Hereditaria 2; ERK, extracellular signal-regulated kinase; FPHH, familial progressive hyper- and hypopigmentation; FPH, familial progressive hyperpigmentation; GDP, guanosine diphosphate; GTP, guanosine triphosphate; NF1, neurofibromin 1; RAL, retinaldehyde.
Journal of Investigative Dermatology  , DOI: ( /jid )
Copyright © 2011 The Society for Investigative Dermatology, Inc Terms and Conditions