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

• Published in: Journal of genetic medicine Vol. 11; no. 1; pp. 40 - 42
• Main Authors: Park, Sangwook, Sohn, Young Bae, Chung, In-Soon, Hong, Ji-Hee, Jung, Eun-Jung, Jeong, Seon-Yong, Jin, Hyun-Seok
• Format: Journal Article
• Language: English
• Published: 대한의학유전학회 30.06.2014
• Subjects: 의학일반
• ISSN: 1226-1769; 2383-8442
• DOI: 10.5734/JGM.2014.11.1.40

Neurofibromatosis type 1 (NF1) is an autosomal dominant disease characterized by neurological, cutaneous, andophthalmological 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-directsequencing confirmed the presence of an NF1 mutation at the genomic level. The mutation analysis revealed an in-frameskipping of exon 46 (c.6757_6858del) caused by a point mutation (c. 6792C>A) in exon 46. In this report, we have describedthe first Korean case of a proband with NF1 that carries an allele with an exon 46 deletion caused by an exonic splicingenhancer site mutation, leading to the skipping of the whole of exon 46 (c.6757_6858del). KCI Citation Count: 0