A Novel Mutation on RAF1 in Association with Fetal Findings Suggestive of Noonan Syndrome

被引:3
|
作者
Kneitel, Anna W. [1 ]
Norby, Audrey [1 ]
Vettraino, Ivana [2 ]
Treadwell, Marjorie C. [1 ]
机构
[1] Univ Michigan, Dept Obstet & Gynecol, Ann Arbor, MI 48109 USA
[2] Genesys Reg Med Ctr, Flint, MI USA
关键词
Noonan syndrome; mutation; fetal diagnosis;
D O I
10.3109/15513815.2015.1087609
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
Noonan syndrome is a multisystem genetic disorder caused by genes encoding proteins involved in the RAS-MAPK pathway. Affected fetuses have variable presentations ranging from the absence of prenatal findings to increased nuchal fold, cystic hygromas, pleural effusions, cardiac malformations, or skin edema. We describe a male fetus who had features consistent with Noonan syndrome at the time of fetal anatomic survey, including hydrops and a possible cardiac defect. Subsequent scan revealed persistent bilateral pleural effusions (with predominance of lymphocytes). After bilateral thoracoamniotic shunt placement, the fetus did well and delivered at term. Prenatal testing revealed an S650F missense mutation in the RAF1 gene, which had not previously been associated with Noonan syndrome.
引用
收藏
页码:361 / 364
页数:4
相关论文
共 50 条
  • [31] Noonan syndrome associated with focal occipital alopecia in a patient with RAF1 variant: A case report and literature review
    Null, Elizabeth
    Olney, Ann Haskins
    Powers, Andria
    GENETICS IN MEDICINE, 2022, 24 (03) : S123 - S124
  • [32] Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes
    Ikumi Umeki
    Tetsuya Niihori
    Taiki Abe
    Shin-ichiro Kanno
    Nobuhiko Okamoto
    Seiji Mizuno
    Kenji Kurosawa
    Keisuke Nagasaki
    Makoto Yoshida
    Hirofumi Ohashi
    Shin-ichi Inoue
    Yoichi Matsubara
    Ikuma Fujiwara
    Shigeo Kure
    Yoko Aoki
    Human Genetics, 2019, 138 : 21 - 35
  • [33] New findings in Noonan syndrome and Leopard syndrome: Activating mutations in RAF-1 and SOS-1
    Dereure, O.
    ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, 2008, 135 (8-9): : 624 - 625
  • [34] Cyclosporine attenuates cardiomyocyte hypertrophy induced by RAF1 mutants in Noonan and LEOPARD syndromes
    Dhandapany, Perundurai S.
    Fabris, Frank
    Tonk, Rahul
    Illaste, Ardo
    Karakikes, Ioannis
    Sorourian, Mehran
    Sheng, Jipo
    Hajjar, Roger J.
    Tartaglia, Marco
    Sobie, Eric A.
    Lebeche, Djamel
    Gelb, Bruce D.
    JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY, 2011, 51 (01) : 4 - 15
  • [35] Noonan Syndrome Associated With Both a New Jnk-Activating Familial SOS1 and a De Novo RAF1 Mutations
    Longoni, Mauro
    Moncini, Silvia
    Cisternino, Mariangela
    Morella, Ilaria M.
    Ferraiuolo, Serena
    Russo, Silvia
    Mannarino, Savina
    Brazzelli, Valeria
    Coi, Paola
    Zippel, Renata
    Venturin, Marco
    Riva, Paola
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (09) : 2176 - 2184
  • [36] Molecular and Clinical Analysis of RAF1 in Noonan Syndrome and Related Disorders: Dephosphorylation of Serine 259 as the Essential Mechanism for Mutant Activation
    Kobayashi, Tomoko
    Aoki, Yoko
    Niihori, Tetsuya
    Cave, Helene
    Verloes, Alain
    Okamoto, Nobuhiko
    Kawame, Hiroshi
    Fujiwara, Ikuma
    Takada, Fumio
    Ohata, Takako
    Sakazume, Satoru
    Ando, Tatsuya
    Nakagawa, Noriko
    Lapunzina, Pablo
    Meneses, Antonio G.
    Gillessen-Kaesbach, Gabriele
    Wieczorek, Dagmar
    Kurosawa, Kenji
    Mizuno, Seiji
    Ohashi, Hirofumi
    David, Albert
    Philip, Nicole
    Guliyeva, Afag
    Narumi, Yoko
    Kure, Shigeo
    Tsuchiya, Shigeru
    Matsubara, Yoichi
    HUMAN MUTATION, 2010, 31 (03) : 284 - 294
  • [37] Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
    Pandit, Bhaswati
    Sarkozy, Anna
    Pennacchio, Len A.
    Carta, Claudio
    Oishi, Kimihiko
    Martinelli, Simone
    Pogna, Edgar A.
    Schackwitz, Wendy
    Ustaszewska, Anna
    Landstrom, Andrew
    Bos, J. Martijn
    Ommen, Steve R.
    Esposito, Giorgia
    Lepri, Francesca
    Faul, Christian
    Mundel, Peter
    Siguero, Juan P. Lopez
    Tenconi, Romano
    Selicorni, Angelo
    Rossi, Cesare
    Mazzanti, Laura
    Torrente, Isabella
    Marino, Bruno
    Digilio, Maria C.
    Zampino, Giuseppe
    Ackerman, Michael J.
    Dallapiccola, Bruno
    Tartaglia, Marco
    Gelb, Bruce D.
    NATURE GENETICS, 2007, 39 (08) : 1007 - 1012
  • [38] Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
    Bhaswati Pandit
    Anna Sarkozy
    Len A Pennacchio
    Claudio Carta
    Kimihiko Oishi
    Simone Martinelli
    Edgar A Pogna
    Wendy Schackwitz
    Anna Ustaszewska
    Andrew Landstrom
    J Martijn Bos
    Steve R Ommen
    Giorgia Esposito
    Francesca Lepri
    Christian Faul
    Peter Mundel
    Juan P López Siguero
    Romano Tenconi
    Angelo Selicorni
    Cesare Rossi
    Laura Mazzanti
    Isabella Torrente
    Bruno Marino
    Maria C Digilio
    Giuseppe Zampino
    Michael J Ackerman
    Bruno Dallapiccola
    Marco Tartaglia
    Bruce D Gelb
    Nature Genetics, 2007, 39 : 1007 - 1012
  • [39] RAF1 MUTATION CAUSING SEVERE BIVENTRICULAR HYPERTROPHY IN A PRETERM INFANT
    Thompson, D. E.
    Patrick, J.
    Surcouf, J.
    Rivera, D.
    JOURNAL OF INVESTIGATIVE MEDICINE, 2017, 65 (02) : 552 - 552
  • [40] Novel MAP4::RAF1 Fusion in a Primary Bone Sarcoma: Expanding the spectrum of RAF1 Fusion Sarcoma
    Yeung, Maximus C. F.
    Lam, Albert Y. L.
    Shek, Tony W. H.
    INTERNATIONAL JOURNAL OF SURGICAL PATHOLOGY, 2022, 30 (06) : 682 - 688