Whole exome sequencing revealed variants in the KMT2A gene responsible for Wiedemann-Steiner Syndrome in three individuals with initial suspicion of 22q11.2 deletion syndrome

被引：0

作者：

Silveira, Henrique Garcia ^{[1
]}

Steiner, Carlos Eduardo ^{[2
]}

Toccoli, Giovana ^{[1
]}

Angeloni, Luise Longo ^{[2
]}

Heleno, Julia Londero ^{[2
]}

Spineli-Silva, Samira ^{[2
]}

dos Santos, Ana Mondadori ^{[2
,3
]}

Vieira, Tarsis Paiva ^{[2
]}

Melaragno, Maria Isabel ^{[1
]}

Gil-da-Silva-Lopes, Vera Lucia ^{[2
]}

机构：

[1] Univ Fed Sao Paulo, Dept Morphol & Genet, Sao Paulo, Brazil

[2] Univ Estadual Campinas, Genet Med & Med Genom, Dept Med Translac, Campinas, Brazil

[3] Fac Sao Leopoldo Mandic, Campinas, Brazil

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷

基金：

巴西圣保罗研究基金会;

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P15.046.C

引用

页码：1603 / 1604

页数：2

共 20 条

[1] Variants in KMT2A in Three Individuals with Previous Suspicion of 22q11.2 Deletion Syndrome
Silveira, Henrique Garcia
Steiner, Carlos Eduardo
Toccoli, Giovana
Angeloni, Luise Longo
Heleno, Julia Londero
Spineli-Silva, Samira
dos Santos, Ana Mondadori
Vieira, Tarsis Paiva
Melaragno, Maria Isabel
Gil-da-Silva-Lopes, Vera Lucia
GENES, 2024, 15 (02)
[2] Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann-Steiner syndrome
Luo, Sukun
Bi, Bo
Zhang, Wenqian
Zhou, Rui
Chen, Wei
Zhao, Peiwei
Huang, Yufeng
Yuan, Li
He, Xuelian
MOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (10):
[3] De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
Strom, Samuel P.
Lozano, Reymundo
Lee, Hane
Dorrani, Naghmeh
Mann, John
O'Lague, Patricia F.
Mans, Nicole
Deignan, Joshua L.
Vilain, Eric
Nelson, Stanley F.
Grody, Wayne W.
Quintero-Rivera, Fabiola
BMC MEDICAL GENETICS, 2014, 15
[4] The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene
Feldman, Hailey R.
Dlouhy, Stephen R.
Lah, Melissa D.
Payne, Katelyn K.
Weaver, David D.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (02) : 300 - 305
[5] Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome
Lebrun, Nicolas
Giurgea, Irina
Goldenberg, Alice
Dieux, Anne
Afenjar, Alexandra
Ghoumid, Jamal
Diebold, Bertrand
Mietton, Leo
Briand-Suleau, Audrey
Billuart, Pierre
Bienvenu, Thierry
EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 26 (01) : 107 - 116
[6] Molecular and cellular issues of KMT2A variants involved in Wiedemann-Steiner syndrome
Nicolas Lebrun
Irina Giurgea
Alice Goldenberg
Anne Dieux
Alexandra Afenjar
Jamal Ghoumid
Bertrand Diebold
Léo Mietton
Audrey Briand-Suleau
Pierre Billuart
Thierry Bienvenu
European Journal of Human Genetics, 2018, 26 : 107 - 116
[7] Advanced Bone Age in a Girl With Wiedemann-Steiner Syndrome and An Exonic Deletion in KMT2A (MLL)
Mendelsohn, Bryce A.
Pronold, Melissa
Long, Roger
Smaoui, Nizar
Slavotinek, Anne M.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (08) : 2079 - 2083
[8] The epileptology of Wiedemann-Steiner syndrome: Electroclinical findings in five patients with KMT2A pathogenic variants
Sahly, Ahmed N.
Srour, Myriam
Buhas, Daniela
Scheffer, Ingrid E.
Myers, Kenneth A.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2023, 44 : 46 - 50
[9] Clinical features in Ukrainian patients with Wiedemann-Steiner syndrome caused by mutations in KMT2A gene
Galagan, Vira
Pozhar, Nikita
Tsygankova, Maryna
Zhurakhovska, Olga
Kurakova, Valentyna
Serafymovych, Viktoriia
EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 1089 - 1089
[10] Diagnostic approach to a paediatric patient with Wiedemann-Steiner syndrome with de novo missense variant in the KMT2A gene - a case report
Reka, Gabriela
Wojciechowska, Katarzyna
Lejman, Monika
ANNALS OF AGRICULTURAL AND ENVIRONMENTAL MEDICINE, 2023, 30 (03) : 577 - 579

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