LEOPARD syndrome with PTPN11 gene mutation in monozygotic twins: A case description and literature review

被引:0
|
作者
Zhou, Yingwen [1 ,2 ,3 ]
Yang, Kai [3 ]
Ma, Kai [2 ,4 ]
Lu, Minjie [1 ,2 ]
机构
[1] Chinese Acad Med Sci & Peking Union Med Coll, Fuwai Hosp, Dept Magnet Resonance Imaging, Beijing, Peoples R China
[2] Chinese Acad Med Sci & Peking Union Med Coll, Natl Ctr Cardiovasc Dis, Beijing, Peoples R China
[3] Cangzhou Cent Hosp, Dept Magnet Resonance Imaging, Cangzhou, Peoples R China
[4] Chinese Acad Med Sci & Peking Union Med Coll, Fuwai Hosp, Dept Echocardiog, Beijing, Peoples R China
来源
ESC HEART FAILURE | 2025年 / 12卷 / 01期
关键词
LEOPARD syndrome; Noonan syndrome; CMR; hypertrophic cardiomyopathy; HYPERTROPHIC CARDIOMYOPATHY; NOONAN SYNDROME; OUTCOMES;
D O I
10.1002/ehf2.15014
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:664 / 667
页数:4
相关论文
共 50 条
  • [1] A novel PTPN11 gene mutation in a patient with LEOPARD syndrome
    Du-Thanh, Aurelie
    Cave, Helene
    Bessis, Didier
    Puso, Carine
    Guilhou, Jean-Jacques
    Dereure, Olivier
    ARCHIVES OF DERMATOLOGY, 2007, 143 (09) : 1210 - 1211
  • [2] A Patient With LEOPARD Syndrome and PTPN11 Mutation
    Lehmann, Lorenz H.
    Schaeufele, Tim
    Buss, Sebastian J.
    Balanova, Maria
    Hartschuh, Wolfgang
    Ehlermann, Philipp
    Katus, Hugo A.
    CIRCULATION, 2009, 119 (09) : 1328 - 1329
  • [3] Pathogenesis of Multiple Lentigines in LEOPARD Syndrome with PTPN11 Gene Mutation
    Motegi, Sei-ichiro
    Yokoyama, Yoko
    Ogino, Sachiko
    Yamada, Kazuya
    Uchiyama, Akihiko
    Perera, Buddhini
    Takeuchi, Yuko
    Ohnishi, Hiroshi
    Ishikawa, Osamu
    ACTA DERMATO-VENEREOLOGICA, 2015, 95 (08) : 978 - 984
  • [4] LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD
    Kim, Jihyun
    Kim, Mi Ri
    Kim, Hee Jung
    Lee, Kyung-A
    Lee, Min-Geol
    ANNALS OF DERMATOLOGY, 2011, 23 (02) : 232 - 235
  • [5] A novel PTPN11 missense mutation in a patient with LEOPARD syndrome
    Osawa, R.
    Akiyama, M.
    Yamanaka, Y.
    Ujie, H.
    Nemoto-Hasebe, I.
    Takeda, A.
    Yanagi, T.
    Shimizu, H.
    BRITISH JOURNAL OF DERMATOLOGY, 2009, 161 (05) : 1202 - 1204
  • [6] PTPN11 mutations in LEOPARD syndrome
    Legius, E
    Schrander-Stumpel, C
    Schollen, E
    Pulles-Heintzberger, C
    Gewillig, M
    Fryns, JP
    JOURNAL OF MEDICAL GENETICS, 2002, 39 (08) : 571 - 574
  • [7] Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive)
    Uçar, C
    Çalybkan, Ü
    Martini, S
    Heinritz, W
    JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 2006, 28 (03) : 123 - 125
  • [8] LEOPARD Syndrome Caused by Tyr279Cys Mutation in the PTPN11 Gene
    Martinez-Quintana, E.
    Rodriguez-Gonzalez, F.
    MOLECULAR SYNDROMOLOGY, 2011, 2 (06) : 251 - 253
  • [9] Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis
    Rydzanicz, Malgorzata
    Glinkowski, Wojciech
    Walczak, Anna
    Koppolu, Agnieszka
    Kostrzewa, Grazyna
    Gasperowicz, Piotr
    Pollak, Agnieszka
    Stawinski, Piotr
    Ploski, Rafal
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2022, 188 (05) : 1482 - 1487
  • [10] Molecular genetic mutation analysis of the PTPN11 gene in the multiple lentigines (LEOPARD) syndrome
    Froster, UG
    Glander, HJ
    Heinritz, W
    HAUTARZT, 2003, 54 (12): : 1190 - 1192