Original Article
Analysis of clinical features and variants of NF1 gene in 12 patients with Neurofibromatosis type 1
Zhang Yuxin, Yan Lulu, Xie Min, Xue Jiangyang, Zhuang Danyan, Li Haibo
Published 2023-12-10
Cite as Chin J Med Genet, 2023, 40(12): 1478-1483. DOI: 10.3760/cma.j.cn511374-20220530-00366
Abstract
ObjectiveTo explore the types of NF1 gene variants and clinical characteristics among patients with Neurofibromatosis type I (NF1).
MethodsClinical 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.
ResultsThe 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.
ConclusionMost 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.
Key words:
Neurofibromatosis type 1; NF1 gene; Cafè-au-lait spots
Contributor Information
Zhang Yuxin
Laboratory for Comprehensive Prevention and Treatment of Birth Defects, Ningbo Women and Children′s Hospital, Ningbo, Zhejiang 315012, China
Yan Lulu
Laboratory for Comprehensive Prevention and Treatment of Birth Defects, Ningbo Women and Children′s Hospital, Ningbo, Zhejiang 315012, China
Xie Min
Laboratory for Comprehensive Prevention and Treatment of Birth Defects, Ningbo Women and Children′s Hospital, Ningbo, Zhejiang 315012, China
Xue Jiangyang
Laboratory for Comprehensive Prevention and Treatment of Birth Defects, Ningbo Women and Children′s Hospital, Ningbo, Zhejiang 315012, China
Zhuang Danyan
Laboratory for Comprehensive Prevention and Treatment of Birth Defects, Ningbo Women and Children′s Hospital, Ningbo, Zhejiang 315012, China
Li Haibo
Laboratory for Comprehensive Prevention and Treatment of Birth Defects, Ningbo Women and Children′s Hospital, Ningbo, Zhejiang 315012, China
