Qi He1, Jingjing Jiang1, Jiao Yang1, Junjie Zeng2, Huan Zhang1, Zhengzhong Zhang1. 1. Department of Dermatology, Affiliated Hospital of North Sichuan Medical College Nanchong 637000, Sichuan, China. 2. Department of Dermatology, Taikang Sichuan Southwest Hospital Company Limited Chengdu 610000, Sichuan, China.
Abstract
BACKGROUND: Mutations in the neurofibromin 1 (NF1) gene are associated with clinical manifestations of neurofibromatosis type 1 (NF1). OBJECTIVE: To clarify the relationship between NF1 variants and disease phenotype. METHODS: Peripheral blood samples were collected from a patient and her relatives and genomic DNA was extracted for next-generation sequencing (NGS) to detect potential variants; the results were validated by Sanger sequencing. RESULTS: A novel frameshift variant c.4508_c.4509delAT (p.Asn1503fsTer26) was detected in exon 34 of the NF1 gene in the patient and her daughter, but not in any other (healthy) family member. This c.4508_c.4509delAT (p.Asn1503fsTer26) frameshift variant of NF1 may underlie NF1 in this family. CONCLUSIONS: This finding expands the spectrum of pathogenic mutations of the NF1 gene, which could aid genetic counseling and prenatal diagnosis. AJTR
BACKGROUND: Mutations in the neurofibromin 1 (NF1) gene are associated with clinical manifestations of neurofibromatosis type 1 (NF1). OBJECTIVE: To clarify the relationship between NF1 variants and disease phenotype. METHODS: Peripheral blood samples were collected from a patient and her relatives and genomic DNA was extracted for next-generation sequencing (NGS) to detect potential variants; the results were validated by Sanger sequencing. RESULTS: A novel frameshift variant c.4508_c.4509delAT (p.Asn1503fsTer26) was detected in exon 34 of the NF1 gene in the patient and her daughter, but not in any other (healthy) family member. This c.4508_c.4509delAT (p.Asn1503fsTer26) frameshift variant of NF1 may underlie NF1 in this family. CONCLUSIONS: This finding expands the spectrum of pathogenic mutations of the NF1 gene, which could aid genetic counseling and prenatal diagnosis. AJTR
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