Severe cardiac defect in Cornelia de Lange syndrome from a novel SMC1A variant

被引：2
|
作者：
Odanaka, Yutaka [1 ]
Ashida, Akira [1 ]
Nemoto, Shintaro [2 ]
Hamanaka, Kohei [3 ]
Matsumoto, Naomichi [3 ]
机构：
[1] Osaka Med & Pharmaceut Univ, Dept Pediat, 2-7 Daigakumachi, Takatsuki, Osaka 5698686, Japan
[2] Osaka Med & Pharmaceut Univ, Dept Thorac & Cardiovasc Surg, Osaka, Japan
[3] Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, Japan
来源：
PEDIATRICS INTERNATIONAL | 2022年 / 64卷 / 01期
关键词：
congenital heart diseases; Cornelia de Lange; dilated cardiomyopathy; pulmonary atresia with ventricular septal defect; SMC1A; CARDIOMYOPATHY; MUTATION; PATIENT;
D O I：
10.1111/ped.15031
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页数：2
相关论文
共 50 条
  • [1] NOVEL CLINICAL FINDINGS WITH SMC1A INVOLVEMENT IN CORNELIA DE LANGE SYNDROME DESCRIBED
    不详
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (02) : 298 - 298
  • [2] Cornelia de Lange Syndrome mutations in SMC1A cause cohesion defects in yeast
    Chen, Jingrong
    Floyd, Erin N.
    Dawson, Dean S.
    Rankin, Susannah
    GENETICS, 2023, 225 (02)
  • [3] A novel pathogenic variant in the SMC1A gene in a patient with atypical Cornelia de Lange syndrome identified by whole exome sequencing
    Kaname, T.
    Yanagi, K.
    Chinen, Y.
    Matsui, Y.
    Iso, M.
    Kuroki, Y.
    Ganaha, A.
    Matsubara, Y.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 : 954 - 954
  • [4] A novel de novo frameshift mutation in SMC1A gene responsible for Cornelia de Lange syndrome 2
    Szalai, R.
    Bene, J.
    Magyari, L.
    Maasz, A.
    Duh, A.
    Till, A.
    Hadzsiev, K.
    Melegh, B.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 933 - 934
  • [5] A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome
    Gil-Salvador, Marta
    Latorre-Pellicer, Ana
    Lucia Campos, Cristina
    Arnedo, Maria
    Teresa Darnaude, Maria
    Diaz de Bustamante, Aranzazu
    Villares, Rebeca
    Palma Milla, Carmen
    Puisac, Beatriz
    Musio, Antonio
    Ramos, Feliciano
    Pie, Juan
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 542 - 542
  • [6] Further Characterization of SMC1A Loss of Function Epilepsy Distinct From Cornelia de Lange Syndrome
    Baranano, Kristin W.
    Kimball, Amy
    Fong, Susan L.
    Egense, Alena S.
    Hudon, Catherine
    Kline, Antonie D.
    JOURNAL OF CHILD NEUROLOGY, 2022, 37 (05) : 390 - 396
  • [7] Hypertrophic Cardiomyopathy in a Girl With Cornelia de Lange Syndrome Due to Mutation in SMC1A
    Limongelli, Giuseppe
    Russo, Silvia
    Digilio, Maria Cristina
    Masciadri, Maura
    Pacileo, Giuseppe
    Fratta, Fiorella
    Martone, Francesca
    Maddaloni, Valeria
    D'Alessandro, Raffaella
    Calabro, Paolo
    Russo, Maria Giovanna
    Calabro, Raffaele
    Larizza, Lidia
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (08) : 2127 - 2129
  • [8] Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA
    Revenkova, Ekaterina
    Focarelli, Maria Luisa
    Susani, Lucia
    Paulis, Marianna
    Bassi, Maria Teresa
    Mannini, Linda
    Frattini, Annalisa
    Delia, Domenico
    Krantz, Ian
    Vezzoni, Paolo
    Jessberger, Rolf
    Musio, Antonio
    HUMAN MOLECULAR GENETICS, 2009, 18 (03) : 418 - 427
  • [9] Case report: A novel case of parental mosaicism in SMC1A gene causes inherited Cornelia de Lange syndrome
    Gil-Salvador, Marta
    Latorre-Pellicer, Ana
    Lucia-Campos, Cristina
    Arnedo, Maria
    Teresa Darnaude, Maria
    Diaz de Bustamante, Aranzazu
    Villares, Rebeca
    Palma Milla, Carmen
    Puisac, Beatriz
    Musio, Antonio
    Ramos, Feliciano J.
    Pie, Juan
    FRONTIERS IN GENETICS, 2022, 13
  • [10] Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation
    Deardorff, Matthew A.
    Kaur, Maninder
    Yaeger, Dinah
    Rampuria, Abhinav
    Korolev, Sergey
    Pie, Juan
    Gil-Rodriguez, Concepcion
    Arnedo, Maria
    Loeys, Bart
    Kline, Antonie D.
    Wilson, Meredith
    Lillquist, Kaj
    Siu, Victoria
    Ramos, Feliciano J.
    Musio, Antonio
    Jackson, Laird S.
    Dorsett, Dale
    Krantz, Ian D.
    AMERICAN JOURNAL OF HUMAN GENETICS, 2007, 80 (03) : 485 - 494
12345