PMC9635557_01
(A) 5cm diameter cafe-au-lait macules on the right knee of III:1. (B) Cafe-au-lait macules of various sizes, skin freckling and subcutaneous nodules spread throughout the back of II:1. (C) Cafe-au-lait macules of various sizes, skin freckling and nodules spread throughout the back of I:2.
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Figure 2 illustrates the clinical picture of three patients.
(A) the proband (III:1). (B) The proband's father (II:1). (C) The proband's grandmother (I:2). Rectangular box: Shown is the wildtype T allele with a small peak for the variant allele G.
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The results of mutation analysis by exome sequencing are shown in Figure 3.
(A) negative control. (B) The proband's father (II:1). Rectangular box: 5' end of exon 37 shifted 9bp forward to 3' end in c.4836.
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The results of the cDNA sequencing suggest that this mutation causes a 9bp shift forward in the splice site at the 5' end of exon 37 (Figure 4).