PT  - JOURNAL ARTICLE
AU  - Chen, Shanshan
AU  - Cheng, Hongrong
AU  - Zhao, Guohua
TI  - The genetic spectrum of <em>NF1</em> variants in 10 unrelated Chinese families with neurofibromatosis type 1
AID  - 10.17712/nsj.2024.3.20230003
DP  - 2024 Jul 01
TA  - Neurosciences Journal
PG  - 177--183
VI  - 29
IP  - 3
4099  - http://nsj.org.sa/content/29/3/177.short
4100  - http://nsj.org.sa/content/29/3/177.full
SO  - Neurosciences (Riyadh)2024 Jul 01; 29
AB  - Objectives: To investigate the clinical and genetic features in a cohort of Chinese families with neurofibromatosis type 1 (NF1).Methods: The clinical information of 21 patients with NF1 in 10 families was retrospectively analyzed. To broaden the genetic spectrum of NF1, multiplex ligation-dependent probe amplification analysis was performed first, followed by the whole-exome sequencing, in order to identify pathogenic or potentially pathogenic variants of NF1 gene in 10 unrelated Chinese families.Results: Nine different NF1 variants were identified in all 10 families. Of these, 7 were known pathogenic variants and included the exon 1 deletion, exons 1-58 deletion, c.5401C>T (p.Q1801*), c.2291-2A>C, c.484C>T (p.Q162*), c.4922G>A (p.W1641*) and c.1019_1020del (p.S340Cfs*25). The 2 novel variants were c.5197T>C (p.S1733P) and c.783_797delinsC (p.K261Nfs*25). The p.S1733P variant was classified as a variant of uncertain significance, while p.K261Nfs*25 was classified as pathogenic. Hence, the positive detection rate of NF1 variants was 100% (10/10). While the truncating variants were responsible for 60.0% (6/10) of the cases, the splicing variant was responsible for 10% (1/10) of the cases.Conclusion: We identified 2 novel heterozygous variants (c.5197T>C and c.783_797delinsC) in the NF1 gene, which broadens the genetic spectrum of the NF1 gene.