A splice-site variant in ANKRD11 associated with classical KBG syndrome

被引：5
|
作者：
Low, Karen J. [1 ]
Hills, Alison [2 ]
Williams, Maggie [2 ]
Duff-Farrier, Celia [2 ]
McKee, Shane [3 ]
Smithson, Sarah F. [1 ]
机构：
[1] Univ Hosp Bristol NHS Trust, Bristol, Avon, England
[2] North Bristol NHS Trust, Bristol Genet Lab, Bristol, Avon, England
[3] Belfast HSC Trust, Northern Ireland Reg Genet Serv, Belfast, Antrim, North Ireland
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2017年 / 173卷 / 10期
关键词：
MUTATIONS;
D O I：
10.1002/ajmg.a.38397
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：2844 / 2846
页数：3
相关论文
共 50 条
  • [1] ANKRD11 variants: KBG syndrome and beyond
    Parenti, Ilaria
    Mallozzi, Mark B.
    Huening, Irina
    Gervasini, Cristina
    Kuechler, Alma
    Agolini, Emanuele
    Albrecht, Beate
    Baquero-Montoya, Carolina
    Bohring, Axel
    Bramswig, Nuria C.
    Busche, Andreas
    Dalski, Andreas
    Guo, Yiran
    Hanker, Britta
    Hellenbroich, Yorck
    Horn, Denise
    Innes, A. Micheil
    Leoni, Chiara
    Li, Yun R.
    Lynch, Sally Ann
    Mariani, Milena
    Medne, Livija
    Mikat, Barbara
    Milani, Donatella
    Onesimo, Roberta
    Ortiz-Gonzalez, Xilma
    Prott, Eva Christina
    Reutter, Heiko
    Rossier, Eva
    Selicorni, Angelo
    Wieacker, Peter
    Wilkens, Alisha
    Wieczorek, Dagmar
    Zackai, Elaine H.
    Zampino, Giuseppe
    Zirn, Birgit
    Hakonarson, Hakon
    Deardorff, Matthew A.
    Gillessen-Kaesbach, Gabriele
    Kaiser, Frank J.
    CLINICAL GENETICS, 2021, 100 (02) : 187 - 200
  • [2] Central precocious puberty in KBG syndrome due to a rare ANKRD11 variant
    Blackburn, James
    Calder, Alistair
    Gaston-Massuet, Carles
    Gevers, Evelien
    HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 529 - 529
  • [3] Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant
    Geckinli, Bilgen Bilge
    Alavanda, Ceren
    Ates, Esra Arslan
    Yildirim, Ozlem
    Arman, Ahmet
    CLINICAL DYSMORPHOLOGY, 2022, 31 (03) : 153 - 156
  • [4] 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
  • [5] Functional investigation of a novel ANKRD11 frameshift variant identified in a Chinese family with KBG syndrome
    Wei, Shuoshuo
    Li, Yanying
    Yang, Wanling
    Chen, Shuxiong
    Liu, Fupeng
    Zhang, Mei
    Ban, Bo
    He, Dongye
    HELIYON, 2024, 10 (06)
  • [6] KBG syndrome involving a single-nucleotide duplication in ANKRD11
    Kleyner, Robert
    Malcolmson, Janet
    Tegay, David
    Ward, Kenneth
    Maughan, Annette
    Maughan, Glenn
    Nelson, Lesa
    Wang, Kai
    Robison, Reid
    Lyon, Gholson J.
    COLD SPRING HARBOR MOLECULAR CASE STUDIES, 2016, 2 (06): : a001131
  • [7] Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
    Charlotte W Ockeloen
    Marjolein H Willemsen
    Sonja de Munnik
    Bregje WM van Bon
    Nicole de Leeuw
    Aad Verrips
    Sarina G Kant
    Elizabeth A Jones
    Han G Brunner
    Rosa LE van Loon
    Eric EJ Smeets
    Mieke M van Haelst
    Gijs van Haaften
    Ann Nordgren
    Helena Malmgren
    Giedre Grigelioniene
    Sascha Vermeer
    Pedro Louro
    Lina Ramos
    Thomas JJ Maal
    Celeste C van Heumen
    Helger G Yntema
    Carine EL Carels
    Tjitske Kleefstra
    European Journal of Human Genetics, 2015, 23 : 1176 - 1185
  • [8] Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome
    Katherina Walz
    Devon Cohen
    Paul M. Neilsen
    Joseph Foster
    Francesco Brancati
    Korcan Demir
    Richard Fisher
    Michelle Moffat
    Nienke E. Verbeek
    Kathrine Bjørgo
    Adriana Lo Castro
    Paolo Curatolo
    Giuseppe Novelli
    Clemer Abad
    Cao Lei
    Lily Zhang
    Oscar Diaz-Horta
    Juan I. Young
    David F. Callen
    Mustafa Tekin
    Human Genetics, 2015, 134 : 181 - 190
  • [9] Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations
    Ockeloen, Charlotte W.
    Willemsen, Marjolein H.
    de Munnik, Sonja
    van Bon, Bregje W. M.
    de Leeuw, Nicole
    Verrips, Aad
    Kant, Sarina G.
    Jones, Elizabeth A.
    Brunner, Han G.
    van Loon, Rosa L. E.
    Smeets, Eric E. J.
    van Haelst, Mieke M.
    van Haaften, Gijs
    Nordgren, Ann
    Malmgren, Helena
    Grigelioniene, Giedre
    Vermeer, Sascha
    Louro, Pedro
    Ramos, Lina
    Maal, Thomas J. J.
    van Heumen, Celeste C.
    Yntema, Helger G.
    Carels, Carine E. L.
    Kleefstra, Tjitske
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2015, 23 (09) : 1176 - 1185
  • [10] Prominent and elongated coccyx, a new manifestation of KBG syndrome associated with novel mutation in ANKRD11
    De Bernardi, Margherita Lucia
    Ivanovski, Ivan
    Caraffi, Stefano Giuseppe
    Maini, Ilenia
    Street, Maria Elisabeth
    Bayat, Allan
    Zollino, Marcella
    Lepri, Francesca Romana
    Gnazzo, Maria
    Errichiello, Edoardo
    Superti-Furga, Andrea
    Garavelli, Livia
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2018, 176 (09) : 1991 - 1995
12345