title: A novel NF1 frame-shift mutation (c.702_703delGT) in a Chinese family with neurofibromatosis type 1.
abstract: This study aimed to characterize the clinical features of a Chinese pedigree with neurofibromatosis type 1 (NF1) and to identify mutations in the NF1 gene. In this three-generation family containing 8 members, 5 had been diagnosed with NF1 and the others were asymptomatic. All members of the family underwent complete medical examinations. Molecular genetic analyses were performed on all subjects included in the study. All exons of NF1 were amplified by polymerase chain reaction, sequenced, and compared with a reference database. Possible changes in function of the protein induced by amino acid variants were predicted by bioinformatic analysis. In this family, the 5 patients presented different clinical phenotypes, but all manifested typical café-au-lait macules. One novel frame-shift mutation, c.702_703delGT, in exon 7 of NF1 was identified in all affected family members, but not in the unaffected family members or in 102 normal controls. This mutation generates a premature stop codon at amino acid position 720. Additionally, a synonymous mutation c.702 G>A was found in 3 family members, including 2 affected and 1 normal individuals. In conclusion, our study suggests that a novel c.702_703delGT frame-shift mutation in NF1 is likely to be responsible for the pathogenesis of NF1 in this family. To the best of our knowledge, it is the first time that a c.702_703delGT mutation has been identified in a family with neurofibromatosis type 1.
authors: Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.
authors: S P
authors: SP
authors: Cai
authors: Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.
authors: N
authors: N
authors: Fan
authors: Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China.
authors: J
authors: J
authors: Chen
authors: Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China.
authors: Z L
authors: ZL
authors: Xia
authors: Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.
authors: Y
authors: Y
authors: Wang
authors: Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China.
authors: X M
authors: XM
authors: Zhou
authors: Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China.
authors: Y
authors: Y
authors: Yin
authors: Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China.
authors: T L
authors: TL
authors: Wen
authors: Department of Ophthalmology, West China Hospital, Sichuan University, Chengdu, China.
authors: Q J
authors: QJ
authors: Xia
authors: Shenzhen Key Laboratory of Ophthalmology, Shenzhen Eye Hospital, Jinan University, Shenzhen, China xliu1213@126.com.
authors: X Y
authors: XY
authors: Liu
authors: Beijing Ophthalmology & Visual Sciences Key Lab, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing, China.
authors: H Y
authors: HY
authors: Wang
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People; D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense; D005091:Exons; D005260:Female; D016368:Frameshift Mutation; D015870:Gene Expression; D005838:Genotype; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009456:Neurofibromatosis 1 / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D025542:Neurofibromin 1 / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype
chemical_list: D018389:Codon, Nonsense; D025542:Neurofibromin 1