Identification of Two Novel ANKRD11 Mutations: Highlighting Incomplete Penetrance in KBG Syndrome

被引：2
|
作者：
Amllal, Nada [1 ,2 ]
Elalaoui, Siham Chafai [1 ,3 ]
Zerkaoui, Maria [3 ]
Chiguer, Amal [1 ,2 ]
Afif, Lamia [1 ,2 ]
Izgua, Amal Thimou [4 ]
Sefiani, Abdelaziz [1 ,2 ]
Lyahyai, Jaber [1 ]
机构：
[1] Univ Mohammed 5, Fac Med & Pharm, Genom Ctr Human Pathol, Res Team Genom & Mol Epidemiol Genet Dis, Rabat, Morocco
[2] Natl Inst Hlth, Dept Med Genet, Ibn Batouta Ave, nb 27, Rabat 10090, Morocco
[3] Med Genet Unit, CHU Ibn Sina, Rabat, Morocco
[4] CHU IBN SINA, Ctr Consultat & External Explorat, HER, Rabat, Morocco
来源：
ANNALS OF LABORATORY MEDICINE | 2024年 / 44卷 / 01期
关键词：
D O I：
10.3343/alm.2024.44.1.110
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
[No abstract available]
引用
收藏
页码：110 / 117
页数：8
相关论文
共 50 条
  • [21] A de novo Microdeletion of ANKRD11 Gene in a Korean Patient with KBG Syndrome
    Lim, Ji-Hun
    Seo, Eul-Ju
    Kim, Yoo-Mi
    Cho, Hyun-Ju
    Lee, Jin-Ok
    Cheon, Chong Kun
    Yoo, Han-Wook
    ANNALS OF LABORATORY MEDICINE, 2014, 34 (05) : 390 - 394
  • [22] Familial intragenic duplication of ANKRD11 underlying three patients of KBG syndrome
    Milena Crippa
    Daniela Rusconi
    Chiara Castronovo
    Ilaria Bestetti
    Silvia Russo
    Anna Cereda
    Angelo Selicorni
    Lidia Larizza
    Palma Finelli
    Molecular Cytogenetics, 8
  • [23] A Korean family with KBG syndrome identified by ANKRD11 mutation, and phenotypic comparison of ANKRD11 mutation and 16q24.3 microdeletion
    Kim, Hyo Jeong
    Cho, Eunhae
    Park, Jong Bum
    Im, Woo Young
    Kim, Hyon J.
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2015, 58 (02) : 86 - 94
  • [24] A splice-site variant in ANKRD11 associated with classical KBG syndrome
    Low, Karen J.
    Hills, Alison
    Williams, Maggie
    Duff-Farrier, Celia
    McKee, Shane
    Smithson, Sarah F.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (10) : 2844 - 2846
  • [25] De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome
    Tunovic, Sanjin
    Barkovich, James
    Sherr, Elliott H.
    Slavotinek, Anne M.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (07) : 1744 - 1749
  • [26] Novel Variant ANKRD11 Gene Mutation Associated With Drug-Resistant Epilepsy in KBG Syndrome Phenotype
    Babunovska, Marija
    Cangovska, Tatjana Cepreganova
    Kuzmanovski, Igor
    Noveski, Predrag
    Plaseska-Karanfilska, Dijana
    Cvetkovska, Emilija
    PEDIATRIC NEUROLOGY, 2024, 155 : 51 - 54
  • [27] ANKRD11 binding to cohesin suggests a connection between KBG syndrome and Cornelia de Lange syndrome
    Liu, Haiyang
    Li, Hao
    Cai, Qixu
    Zhang, Jie
    Zhong, Hongxin
    Hu, Gongcheng
    Zhao, Shuaizhu
    Lu, Yuli
    Mao, Yudi
    Lu, Youming
    Yao, Hongjie
    Zhang, Mingjie
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2025, 122 (04)
  • [28] Mosaicism of a novel variant in the ANKRD11 gene in a child with a mild KBG phenotype: A case report
    Roberto Franceschi
    Francesca Rivieri
    Antonio Novelli
    Daniele Ferretti
    Adriano Anesi
    Massimo Soffiati
    Giulia Porretti
    Evelina Maines
    Mafalda Mucciolo
    Giorgio Radetti
    World Journal of Medical Genetics, 2023, (02) : 21 - 27
  • [29] Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein
    de Boer, Elke
    Ockeloen, Charlotte W.
    Kampen, Rosalie A.
    Hampstead, Juliet E.
    Dingemans, Alexander J. M.
    Rots, Dmitrijs
    Lutje, Lukas
    Ashraf, Tazeen
    Baker, Rachel
    Barat-Houari, Mouna
    Angle, Brad
    Chatron, Nicolas
    Denomme-Pichon, Anne-Sophie
    Devinsky, Orrin
    Dubourg, Christele
    Elmslie, Frances
    Elloumi, Houda Zghal
    Faivre, Laurence
    Fitzgerald-Butt, Sarah
    Genevieve, David
    Goos, Jacqueline A. C.
    Helm, Benjamin M.
    Kini, Usha
    Lasa-Aranzasti, Amaia
    Lesca, Gaetan
    Lynch, Sally A.
    Mathijssen, Irene M. J.
    McGowan, Ruth
    Monaghan, Kristin G.
    Odent, Sylvie
    Pfundt, Rolph
    Putoux, Audrey
    van Reeuwijk, Jeroen
    Santen, Gijs W. E.
    Sasaki, Erina
    Sorlin, Arthur
    van der Spek, Peter J.
    Stegmann, Alexander P. A.
    Swagemakers, Sigrid M. A.
    Valenzuela, Irene
    Viora-Dupont, Eleonore
    Vitobello, Antonio
    Ware, Stephanie M.
    Weber, Mathys
    Gilissen, Christian
    Low, Karen J.
    Fisher, Simon E.
    Vissers, Lisenka E. L. M.
    Wong, Maggie M. K.
    Kleefstra, Tjitske
    GENETICS IN MEDICINE, 2022, 24 (10) : 2051 - 2064
  • [30] Clinical and molecular findings in three Albanian families with KBG syndrome caused by mutation of ANKRD11 gene
    Babameto-Laku, Anila
    Bushati, Aida
    Gjikopulli, Agim
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 237 - 237
12345