Table 4 Genetic analysis
Author | Year of publication | Family history | Genetic analysis of mutation |
|---|---|---|---|
Beert et al. [21] | 2012 | No | Insertion of chromosomal bands 1p36-p35 at 17q11.2, in 11 of 18 analyzed cells (Biallelic NF1 inactivation). |
Jungmann et al. [22] | 2016 | Yes | p.P733L mutation in exon 15 of the KIT gene, while wild-type sequences were found in KIT exons 8, 9, 11, 13, 14 and 17. |
Sawyer et al. [23] | 2004 | Yes | Reciprocal translocation t(4;9)(q31;p22) |
Sugiyama et al. [24] | 2014 | No | Abnormal gains in NF1 gene (17q11.2) |