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Analysis of clinical features and variants of NF1 gene in 12 patients with Neurofibromatosis type 1 / 中华医学遗传学杂志
Article en Zh | WPRIM | ID: wpr-1009325
Biblioteca responsable: WPRO
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.
Asunto(s)
Texto completo: 1 Índice: WPRIM Asunto principal: Estudios Retrospectivos / Mutación del Sistema de Lectura / Genes de Neurofibromatosis 1 / Neurofibromatosis 1 / Manchas Café con Leche Límite: Child / Female / Humans / Male Idioma: Zh Revista: Chinese Journal of Medical Genetics Año: 2023 Tipo del documento: Article
Texto completo: 1 Índice: WPRIM Asunto principal: Estudios Retrospectivos / Mutación del Sistema de Lectura / Genes de Neurofibromatosis 1 / Neurofibromatosis 1 / Manchas Café con Leche Límite: Child / Female / Humans / Male Idioma: Zh Revista: Chinese Journal of Medical Genetics Año: 2023 Tipo del documento: Article