A case of Wiedemann-Steiner syndrome caused by a novel KMT2A c.8862del variant

被引：0
作者：
Nishida, Hikaru [1 ]
Imagawa, Eri [1 ]
Tsunogai, Toshiki [1 ]
Saijo, Naoya [2 ]
Ogata, Jin [1 ]
Sakurai, Ken [1 ]
Oishi, Kimihiko [1 ]
机构：
[1] Jikei Univ, Sch Med, Dept Pediat, 3-25-8 Nishi Shimbashi,Minato Ku, Tokyo 1058461, Japan
[2] Tohoku Univ, Grad Sch Med, Dept Pediat, Sendai, Japan
来源：
PEDIATRICS INTERNATIONAL | 2025年 / 67卷 / 01期
关键词：
chromatinopathies; frameshift variant; KMT2A; Wiedemann-Steiner syndrome;
D O I：
10.1111/ped.15873
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
[No abstract available]
引用
收藏
页数：3
相关论文
共 5 条
  • [1] KMT2A: Umbrella Gene for Multiple Diseases
    Castiglioni, Silvia
    Di Fede, Elisabetta
    Bernardelli, Clara
    Lettieri, Antonella
    Parodi, Chiara
    Grazioli, Paolo
    Colombo, Elisa Adele
    Ancona, Silvia
    Milani, Donatella
    Ottaviano, Emerenziana
    Borghi, Elisa
    Massa, Valentina
    Ghelma, Filippo
    Vignoli, Aglaia
    Lesma, Elena
    Gervasini, Cristina
    [J]. GENES, 2022, 13 (03)
  • [2] Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes
    Di Fede, Elisabetta
    Massa, Valentina
    Augello, Bartolomeo
    Squeo, Gabriella
    Scarano, Emanuela
    Perri, Anna Maria
    Fischetto, Rita
    Causio, Francesco Andrea
    Zampino, Giuseppe
    Piccione, Maria
    Curridori, Elena
    Mazza, Tommaso
    Castellana, Stefano
    Larizza, Lidia
    Ghelma, Filippo
    Colombo, Elisa Adele
    Gandini, Maria Chiara
    Castori, Marco
    Merla, Giuseppe
    Milani, Donatella
    Gervasini, Cristina
    [J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2021, 29 (01) : 88 - 98
  • [3] De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome
    Jones, Wendy D.
    Dafou, Dimitra
    McEntagart, Meriel
    Woollard, Wesley J.
    Elmslie, Frances V.
    Holder-Espinasse, Muriel
    Irving, Melita
    Saggar, Anand K.
    Smithson, Sarah
    Trembath, Richard C.
    Deshpande, Charu
    Simpson, Michael A.
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 91 (02) : 358 - 364
  • [4] Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome
    Sheppard, Sarah E.
    Campbell, Ian M.
    Harr, Margaret H.
    Gold, Nina
    Li, Dong
    Bjornsson, Hans T.
    Cohen, Julie S.
    Fahrner, Jill A.
    Fatemi, Ali
    Harris, Jacqueline R.
    Nowak, Catherine
    Stevens, Cathy A.
    Grand, Katheryn
    Au, Margaret
    Graham, John M., Jr.
    Sanchez-Lara, Pedro A.
    Del Campo, Miguel
    Jones, Marilyn C.
    Abdul-Rahman, Omar
    Alkuraya, Fowzan S.
    Bassetti, Jennifer A.
    Bergstrom, Katherine
    Bhoj, Elizabeth
    Dugan, Sarah
    Kaplan, Julie D.
    Derar, Nada
    Gripp, Karen W.
    Hauser, Natalie
    Innes, A. Micheil
    Keena, Beth
    Kodra, Neslida
    Miller, Rebecca
    Nelson, Beverly
    Nowaczyk, Malgorzata J.
    Rahbeeni, Zuhair
    Ben-Shachar, Shay
    Shieh, Joseph T.
    Slavotinek, Anne
    Sobering, Andrew K.
    Abbott, Mary-Alice
    Allain, Dawn C.
    Amlie-Wolf, Louise
    Au, Ping Yee Billie
    Bedoukian, Emma
    Beek, Geoffrey
    Barry, James
    Berg, Janet
    Bernstein, Jonathan A.
    Cytrynbaum, Cheryl
    Chung, Brian Hon-Yin
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2021, 185 (06) : 1649 - 1665
  • [5] Sheppard SE., 1993, GeneReviews(R)
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