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A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation

Authors
Park, S; Sohn, YB; Chung, IS; Hong, JH; Jung, EJ; Jeong, SY; Jin, HS
Citation
Journal of genetic medicine, 11(1):40-42, 2014
Journal Title
Journal of genetic medicine; 대한의학유전학회지
ISSN
1226-17692233-9108
Abstract
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease characterized by neurological, cutaneous, and ophthalmological manifestations. A 33-year-old woman with typical symptoms of NF1 visited Ajou University Hospital. Screening of the whole-messenger RNA region of NF1 at the complementary DNA level by polymerase chain reaction-direct sequencing confirmed the presence of an NF1 mutation at the genomic level. The mutation analysis revealed an in-frame skipping of exon 46 (c.6757_6858del) caused by a point mutation (c. 6792C>A) in exon 46. In this report, we have described the first Korean case of a proband with NF1 that carries an allele with an exon 46 deletion caused by an exonic splicing enhancer site mutation, leading to the skipping of the whole of exon 46 (c.6757_6858del).
Keywords
Neurofibromatosis 1Exon skippingExonic splicing enhancerMutation
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Pharmacology
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
AJOU Authors
박, 상욱손, 영배정, 선용
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