Clinical features and disease severity in patients with mosaic neurofibromatosis type 1: a single-center study and literature review

Table 2 Results of the NF1 analyses in the MNF1 cohort from Centre for Rare Diseases

Patient/type	Sample	Analysis method	Result of NF1 analysis
10, Unilateral	Blood (B-lymphocytes)	MLPA analysis	Negative
12, Unilateral	Neurofibroma	NGS and MLPA	Disease-associated variant (c.3721C > T(p.Arg1241))
	Blood	–*	Negative
14, Unilateral	Blood and plexiform neurofibroma	NGS and MLPA	Negative incl. SPRED negative
15, Bilateral	Blood and CAL spot	–*	Negative
16, Bilateral	Blood	NGS and MLPA	Negative incl. SPRED negative
17, Unilateral	Blood and neurofibroma**	DNA sequencing (exon 31)	Pathogenic variant (c.5814_5815delTT)

MLPA = Multiplex Ligand-dependent Probe Amplification, NGS = Next Generation Sequencing
*Information on the analysis method was not available
**The level of mosaicism was estimated to be higher in DNA from the neurofibroma biopsy than in the DNA from blood, but without information on percentages

ISSN: 1750-1172