Table 3.

Breakpoint locations of the 9 atypical NF1 deletions (group #2A deletions) which cannot be distinguished from type-2 NF1 deletions by means of MLPA

Patient	Breakpoint locations	Deletion size	Centromeric breakpoint location	Telomeric breakpoint location
D1008345	29,094,424 (30,218,204)a	1,123,781 bp	SUZ12P	UTP6
2535	29,101,686 (30,250,762)a	1,149,077 bp	SUZ12P	Between UTP6 and SUZ12
R84329	29,074,557 (30,223,384)a	1,148,828 bp	SUZ12P	UTP6
R48018	29,084,006 (30,241,383)a	1,157,378 bp	SUZ12P	Between UTP6 and SUZ12
Ak-47055	29,082,023 (30,243,011)a	1,160,989 bp	SUZ12P	Between UTP6 and SUZ12
R97108	29,098,365–29,107,598b (30,202,371–30,250,614)	1.1–1.2 Mb	SUZ12P	Between UTP6 and SUZ12
R49005	29,058,862–29,068,410b (30,202,371–30,250,614)	1.1–1.2 Mb	SUZ12P	Between UTP6 and SUZ12
#4	29,116,494 (30,260,501)c	1,144,007 bp	CRLF3	Between UTP6 and SUZ12
556	29,100,044–29,104,296d (30,226,743–30,227,597)	1,122,447 bp	Between SUZ12P and CRLF3	UTP6

Indicated are the genomic positions of the centromeric breakpoints and, in parentheses, the positions of the telomeric breakpoints according to the human genome version GRCh/hg19

^aGenomic positions correspond to the nucleotides immediately before and immediately after the deleted DNA sequence. The deletion breakpoints were identified by breakpoint-spanning PCRs and sequence analysis of these PCR products (Vogt et al. 2014)

^bThe breakpoint regions as determined by custom-designed MLPA (Vogt et al. 2012)

^cThe breakpoints as determined by microarray analysis (Parisien-La Salle et al. 2019)

^dThe breakpoint regions as determined by microarray analysis (Büki et al. 2021)