A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient

被引：13
作者：
Park, KC
Choi, HO
Park, KH
Kim, KH
Eun, HC
机构：
[1] Seoul Natl Univ, Coll Med, Dept Dermatol, Chongno Gu, Seoul 110744, South Korea
[2] Seoul Natl Univ, Coll Med, Clin Res Inst, Artificial Organ Lab,Chongno Gu, Seoul 110744, South Korea
来源：
JOURNAL OF HUMAN GENETICS | 2000年 / 45卷 / 02期
关键词：
hot spot; mutation; neurofibromatosis;
D O I：
10.1007/s100380050016
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
We report a case of neurofibromatosis (NF) 1 presenting as a C-to-T transition changing an Arg-1947 codon to a stop codon. Because this mutation has been described in multiple Caucasian and Japanese families, the codon CGA for Arg-1947 in the NF1 gene is considered to be a hotspot for mutation in neurofibromatosis type 1 in ail ethnic groups.
引用
收藏
页码：84 / 85
页数：2
相关论文
共 50 条
  • [1] A nonsense mutation at Arg-1947 in the NF1 gene in a case of neurofibromatosis type 1 in a Korean patient
    Kyoung Chan Park
    Hyun Ok Choi
    Kee Ho Park
    Kyu Han Kim
    Hee Chul Eun
    Journal of Human Genetics, 2000, 45 : 84 - 85
  • [2] Recurrent NF1 gene mutation in a patient with oligosymptomatic neurofibromatosis type 1 (NF1)
    Buske, A
    Gewies, A
    Lehmann, R
    Rüther, K
    Algermissen, B
    Nürnberg, P
    Tinschert, S
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1999, 86 (04): : 328 - 330
  • [3] Identification of the NF1 gene mutation in Korean families with neurofibromatosis type 1
    Jo, Yong Hwa
    Kim, Hye Ok
    Song, Hae-Ryong
    Yoon, Kyung-Sik
    GENES & GENOMICS, 2014, 36 (01) : 11 - 15
  • [4] Identification of the NF1 gene mutation in Korean families with neurofibromatosis type 1
    Yong Hwa Jo
    Hye Ok Kim
    Hae-Ryong Song
    Kyung-Sik Yoon
    Genes & Genomics, 2014, 36 : 11 - 15
  • [5] A new nonsense mutation in the NF1 gene with neurofibromatosis–Noonan syndrome phenotype
    Sevgi Yimenicioğlu
    Ayten Yakut
    Kadri Karaer
    Martin Zenker
    Arzu Ekici
    Kürşat Bora Çarman
    Child's Nervous System, 2012, 28 : 2181 - 2183
  • [6] The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1
    Jeong, SY
    Park, SJ
    Kim, HJ
    JOURNAL OF KOREAN MEDICAL SCIENCE, 2006, 21 (01) : 107 - 112
  • [7] A novel mutation of the NF1 gene in a Chinese family with neurofibromatosis type 1
    He, Qi
    Jiang, Jingjing
    Yang, Jiao
    Zeng, Junjie
    Zhang, Huan
    Zhang, Zhengzhong
    AMERICAN JOURNAL OF TRANSLATIONAL RESEARCH, 2022, 14 (07): : 5139 - 5145
  • [8] Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation
    Nicita, Francesco
    Torrente, Isabella
    Spalice, Alberto
    Bottillo, Irene
    Papetti, Laura
    Pinna, Valentina
    Ursitti, Fabiana
    Ruggieri, Martino
    JOURNAL OF CLINICAL NEUROSCIENCE, 2014, 21 (02) : 328 - 330
  • [9] A new nonsense mutation in the NF1 gene with neurofibromatosis-Noonan syndrome phenotype
    Yimenicioglu, Sevgi
    Yakut, Ayten
    Karaer, Kadri
    Zenker, Martin
    Ekici, Arzu
    Carman, Kursat Bora
    CHILDS NERVOUS SYSTEM, 2012, 28 (12) : 2181 - 2183
  • [10] A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1
    Gabriele, Anna Lia
    Ruggieri, Martino
    Patitucci, Alessandra
    Magariello, Angela
    Conforti, Francesca Luisa
    Mazzei, Rosalucia
    Muglia, Maria
    Ungaro, Carmine
    Di Palma, Gemma
    Citrigno, Luigi
    Sproviero, William
    Gambardella, Antonio
    Quattrone, Aldo
    CHILDS NERVOUS SYSTEM, 2011, 27 (04) : 635 - 638
12345