J Genet Med.  2014 Jun;11(1):40-42. 10.5734/JGM.2014.11.1.40.

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

Affiliations
  • 1Department of Pharmacology, Ajou University School of Medicine, Suwon, Korea.
  • 2Department of Medical Genetics, Ajou University School of Medicine, Suwon, Korea. jinhs@ajou.ac.kr

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).

Keyword

Neurofibromatosis 1; Exon skipping; Exonic splicing enhancer; Mutation
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