Analysis of clinical features and variants of NF1 gene in 12 patients with Neurofibromatosis type 1.
10.3760/cma.j.cn511374-20220530-00366
- Author:
Yuxin ZHANG
1
;
Lulu YAN
;
Min XIE
;
Jiangyang XUE
;
Danyan ZHUANG
;
Haibo LI
Author Information
1. Laboratory for Comprehensive Prevention and Treatment of Birth Defects, Ningbo Women and Children's Hospital, Ningbo, Zhejiang 315012, China. lihaibo-775@163.com.
- Publication Type:Journal Article
- MeSH:
Child;
Humans;
Female;
Male;
Neurofibromatosis 1/diagnosis*;
Cafe-au-Lait Spots/diagnosis*;
Genes, Neurofibromatosis 1;
Retrospective Studies;
Frameshift Mutation
- From:
Chinese Journal of Medical Genetics
2023;40(12):1478-1483
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the types of NF1 gene variants and clinical characteristics among patients with Neurofibromatosis type I (NF1).
METHODS:Clinical data of 12 patients diagnosed at Ningbo Women and Children's Hospital between December 2019 and May 2022 were retrospectively analyzed. The probands and their family members were subjected to high-throughput sequencing, and candidate variants were verified by Sanger sequencing and chromosome microarray analysis.
RESULTS:The 12 patients had ranged from 4 months to 27 years old, with a male-to-female ratio of 2 : 1. Cafè-au-lait spots were found in all patients. 83.3% of them also had axillary and/or inguinal freckling, 58.3% had neurofibromas, and 16.7% had congenital pseudarthrosis of the tibia. Five types of NF1 gene variants were identified in the patients, including 5 nonsense variants, 4 frameshift variants, 1 missense variant, 1 splice variant, 1 large deletion involving the whole gene. Six patients were found to harbor de novo variants, 2 had inherited the variants from their parents, and 4 were not verified for their parental origin. The c.3379del (p.Thr1127Glnfs*15) and c.6628_6629del (p.Glu2210Thrfs*10) variants were unreported in literature and databases.
CONCLUSION:Most NF1 patients may present with Cafè-au-lait spots initially and are due to pathogenic variant of the NF1 gene. High-throughput sequencing can efficiently identify such variants among the patients and enable the definite diagnosis.
