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KMID : 1100820210110020135
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Laboratory Medicine Online
2021 Volume.11 No. 2 p.135 ~ p.138
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Neurofibromatosis Type I: Case Reports of Two Novel Mutations
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Lee Ho-Jong
Kim Ung-Jun
Kim Woo-Shin
Ko Young-Jin
Park Geon
Jang Sook-Jin
Kang Seong-Ho
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Abstract
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Neurofibromatosis type 1 (NF1) is characterized by multiple cafe-au-lait spots, axillary and inguinal freckling, Lisch nodules in the iris, and fibromatous tumors of the skin. We performed direct sequencing of 58 exons comprising the NF1 gene along with the associated intronic regions in suspected cases of NF1. We have detected two different novel frameshift mutations in two cases, respectively. The first case involved a 59-year-old male presenting with neurofibromas and a positive family history of NF1. The patient presented with leiomyomas of the iliac bone and right adrenal gland, and an astrocytoma of the left cerebellum. The mutation in this patient was caused by heterozygous deletion of base A at nucleotide position 3108 (c.3108delA; p.Lys1036Asnfs*14). The second case involved a 25-month-old girl presenting with multiple cafe-au-lait spots and a positive family history of NF1. The mutation in this patient was caused by heterozygous deletion of base G at nucleotide position 7623 (c.7623delG; p.Ile2541Serfs*7). These novel mutations may be useful for advanced genetic counseling and clinical management of patients with NF1 and their families.
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KEYWORD
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Neurofibromatosis type I, NF1 gene, Frameshift mutation
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