Clinical delineation, sex differences and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome Type 2

被引：0

作者：

Faundes, Victor ^{[1
,2
]}

Goh, S. ^{[2
]}

Akilapa, R. ^{[3
]}

Bezuidenhout, H. ^{[4
,5
]}

Bjornsson, H. T. ^{[6
,7
]}

Bradley, L. ^{[3
]}

Brady, A. F. ^{[8
]}

Brischoux-Boucher, E. ^{[9
]}

Brunner, H. ^{[10
]}

Bulk, S. ^{[11
]}

Canham, N. ^{[12
]}

Cody, D.

Dentici, M. L. ^{[13
]}

Digilio, M. C. ^{[13
]}

Elmslie, F. ^{[14
]}

Fry, A. E. ^{[15
]}

Gill, H. ^{[8
]}

Hurst, J. ^{[16
]}

Johnson, D. ^{[18
,19
]}

Julia, S. ^{[17
,20
,21
]}

Lachlan, K. ^{[22
]}

Lebel, R. R. ^{[23
]}

Byler, M. ^{[23
]}

Gershon, E. ^{[24
]}

Lemire, E. ^{[25
]}

Gnazzo, M. ^{[26
]}

Lepri, F. R. ^{[26
]}

Marchese, A. ^{[27
]}

McEntagart, M. ^{[14
,28
]}

McGaughran, J.

Mizuno, S. ^{[29
]}

Okamoto, N. ^{[30
]}

Rieubland, C. ^{[31
]}

Rodgers, J. ^{[28
]}

Sasaki, E.

Scalais, E. ^{[32
]}

Scurr, I. ^{[33
]}

Suri, M. ^{[34
]}

van der Burgt, I. ^{[35
]}

Matsumoto, N. ^{[36
]}

Miyake, N. ^{[35
,36
]}

Benoit, V.

Lederer, D.

Banka, S. ^{[2
]}

机构：

[1] Univ Chile, Santiago, Chile

[2] Univ Manchester, Manchester, Lancs, England

[3] Northwick Pk Hosp & Clin Res Ctr, NW Thames Reg Genet Serv, Harrow, Middx, England

[4] Tygerberg Acad Hosp, Clin Unit Med Genet & Genet Counselling, Cape Town, South Africa

[5] Stellenbosch Univ, Div Mol Biol & Human Genet, Fac Med & Hlth Sci, Cape Town, South Africa

[6] Johns Hopkins Univ, McKusick Nathans Dept Genet Med, Sch Med, Baltimore, MD 21218 USA

[7] Univ Iceland, Reykjavik, Iceland

[8] Childrens Hlth Ireland Crumlin, Dept Clin Genet, Dublin, Ireland

[9] Univ Franche Comte, Ctr Genet Humaine, Ctr Hospitalier & Univ, Besancon, France

[10] Radboud Univ Nijmegen Med Ctr, Dept Human Genet, Nijmegen, Netherlands

[11] CHU Liege, Ctr Genet Humaine, Liege, Belgium

[12] Liverpool Womens Hosp, Liverpool Ctr Genom Med, Liverpool, Merseyside, England

[13] Bambino Gesu Pediat Hosp, Med Genet Unit, Acad Dept Pediat, IRCCS, Rome, Italy

[14] St Georges Univ London, SW Thames Reg Genet Serv, London, England

[15] Univ Wales Hosp, Inst Med Genet, Heath Pk, Cardiff, Wales

[16] Great Ormond St Hosp Sick Children, NE Thames Genet Serv, London, England

[17] Northern Gen Hosp, Sheffield Childrens NHS Fdn Trust, Sheffield Clin Genet Serv, Sheffield, S Yorkshire, England

[18] Toulouse Univ Hosp, Dept Pathol Neurosurg Oncopediat, Toulouse, France

[19] Toulouse Univ Hosp, Dept Genet & Mol Biol, Toulouse, France

[20] Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England

[21] Princess Anne Hosp, Div Human Genet, Southampton, Hants, England

[22] SUNY Upstate Med Univ, Dept Pediat, Med Genet Sect, Syracuse, NY 13210 USA

[23] Yale New Haven Hlth, Dept Pediat, New Haven, CT USA

[24] Univ Saskatchewan, Royal Univ Hosp, Dept Pediat, Saskatoon, SK, Canada

[25] Bambino Gesu Pediat Hosp, IRCCS, Lab Med Genet, Rome, Italy

[26] Pediatrie Ctr Hosp Reg Namur, Serv Pediatr, Namur, Belgium

[27] Royal Brisbane & Womens Hosp, Genet Hlth Queensland, Herston, Qld, Australia

[28] Cent Hosp, Aichi Dev Disabil Ctr, Dept Clin Genet, Nagoya, Aichi, Japan

[29] Osaka Womens & Childrens Hosp, Osaka, Japan

[30] Univ Bern, Univ Hosp Bern, Dept Pediat, Div Human Genet, Bern, Switzerland

[31] Natl Hosp, Dept Pediat Neurol, Luxembourg, Luxembourg

[32] Univ Hosp Bristol, Clin Genet, Bristol, Avon, England

[33] City Hosp Campus, Nottingham Clin Genet Serv, Nottingham, England

[34] Radboud Univ Nijmegen Med Ctr, Donders Inst Brain Cognit & Behav, Dept Human Genet, Nijmegen, Netherlands

[35] Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa, Japan

[36] Inst Pathol & Genet, Ctr Genet Humaine, Gosselies, Belgium

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2022年 / 30卷 / SUPPL 1期

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：

C01.4

引用

页码：24 / 25

页数：2

共 30 条

[21] Functional Characterization of PHEX Gene Variants in Children With X-Linked Hypophosphatemic Rickets Shows No Evidence of Genotype-Phenotype Correlation
Zheng, Bixia
Wang, Chunli
Chen, Qiuxia
Che, Ruochen
Sha, Yugen
Zhao, Fei
Ding, Guixia
Zhou, Wei
Jia, Zhanjun
Huang, Songming
Chen, Ying
Zhang, Aihua
JOURNAL OF BONE AND MINERAL RESEARCH, 2020, 35 (09) : 1718 - 1725
[22] Genotype-phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea
Kim, Ji Hyun
Lim, Seon Hee
Song, Ji Yeon
Cho, Myung Hyun
Hyun, HyeSun
Yang, Eun Mi
Lee, Jung Won
Cho, Min Hyun
Park, Min Ji
Lee, Joo Hoon
Jung, Jiwon
Yoo, Kee Hwan
Jang, Kyung Mi
Pai, Ki Soo
Suh, Jin-Soon
Namgoong, Mee Kyung
Chung, Woo Yeong
Kim, Su Jin
Cho, Eun Young
Kim, Kyung Min
Kim, Nam Hee
Kim, Minsun
Paik, Jin Ho
Kang, Hee Gyung
Ahn, Yo Han
Cheong, Hae Il
SCIENTIFIC REPORTS, 2023, 13 (01)
[23] Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials
Galbis-Martinez, Lilian
Blanco-Kelly, Fiona
Garcia-Garcia, Gema
Avila-Fernandez, Almudena
Jaijo, Teresa
Fuster-Garcia, Carla
Perea-Romero, Irene
Zurita-Munoz, Olga
Jimenez-Rolando, Belen
Carreno, Ester
Garcia-Sandoval, Blanca
Millan, Jose M.
Ayuso, Carmen
ACTA OPHTHALMOLOGICA, 2021, 99 (08) : 922 - 930
[24] Genotype-Phenotype Correlations for Pathogenic COL4A3-COL4A5 Variants in X-Linked, Autosomal Recessive, and Autosomal Dominant Alport Syndrome
Savige, Judy
Huang, Mary
Croos Dabrera, Marina Shenelli
Shukla, Krushnam
Gibson, Joel
FRONTIERS IN MEDICINE, 2022, 9
[25] Clinical delineation and genotype-phenotype correlation in 104 children with kabuki syndrome: A single-center, cross-sectional and follow-up study in China
Wang, Yirou
Hu, Feihan
Xu, Xueqiong
Tan, Jun
Yu, Tingting
Li, Niu
Li, Qian
Chen, Yao
Chang, Guoying
Ma, Xiuqi
Yu, Ding
Wang, Xiumin
EUROPEAN JOURNAL OF PEDIATRICS, 2025, 184 (04)
[26] Genotype-phenotype correlation in X-linked Alport syndrome patients carrying missense mutations in the collagenous domain of COL4A5
Tsiakkis, D.
Pieri, M.
Koupepidou, P.
Demosthenous, P.
Panayidou, K.
Deltas, C.
CLINICAL GENETICS, 2012, 82 (03) : 297 - 299
[27] KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants (vol 21, 10.1038/s41436-018-0259-2, 2019)
Kennedy, Joanna
Goudie, David
Blair, Edward
Chandler, Kate
Joss, Shelagh
McKay, Victoria
Green, Andrew
Armstrong, Ruth
Lees, Melissa
Kamien, Benjamin
Hopper, Bruce
Tan, Tiong Yang
Yap, Patrick
Stark, Zornitza
Okamoto, Nobuhiko
Miyake, Noriko
Matsumoto, Naomichi
Macnamara, Ellen
Murphy, Jennifer L.
McCormick, Elizabeth
Hakonarson, Hakon
Falk, Marni J.
Li, Dong
Blackburn, Patrick
Klee, Eric
Babovic-Vuksanovic, Dusica
Schelley, Susan
Hudgins, Louanne
Kant, Sarina
Isidor, Bertrand
Cogne, Benjamin
Bradbury, Kimberley
Williams, Mark
Patel, Chirag
Heussler, Helen
Duff-Farrier, Celia
Lakeman, Phillis
Scurr, Ingrid
Kini, Usha
Elting, Mariet
Reijnders, Margot
Schuurs-Hoeijmakers, Janneke
Wafik, Mohamed
Blomhoff, Anne
Ruivenkamp, Claudia A. L.
Nibbeling, Esther
Dingemans, Alexander J. M.
Douine, Emilie D.
Nelson, Stanley F.
Hempel, Maja
GENETICS IN MEDICINE, 2020, 22 (11) : 1920 - 1920
[28] Genotype-phenotype effects of the X-linked GSPT2 gene: severe developmental and epileptic encephalopathy in patients with missense variants versus mild developmental delay in patients with deletions
Beunders, Gea
Kas, Evert
White, Sue
Abbott, Kristin M.
Vos, Yvonne J.
Diemen, Cleo C.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (SUPPL 1) : 238 - 238
[29] Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)
Schmid, Jana Pachlopnik
Canioni, Danielle
Moshous, Despina
Touzot, Fabien
Mahlaoui, Nizar
Hauck, Fabian
Kanegane, Hirokazu
Lopez-Granados, Eduardo
Mejstrikova, Ester
Pellier, Isabelle
Galicier, Lionel
Galambrun, Claire
Barlogis, Vincent
Bordigoni, Pierre
Fourmaintraux, Alain
Hamidou, Mohamed
Dabadie, Alain
Le Deist, Francoise
Haerynck, Filomeen
Ouachee-Chardin, Marie
Rohrlich, Pierre
Stephan, Jean-Louis
Lenoir, Christelle
Rigaud, Stephanie
Lambert, Nathalie
Milili, Michele
Schiff, Claudin
Chapel, Helen
Picard, Capucine
de Saint Basile, Genevieve
Blanche, Stephane
Fischer, Alain
Latour, Sylvain
BLOOD, 2011, 117 (05) : 1522 - 1529
[30] GENOTYPE-PHENOTYPE CORRELATION IN A COHORT OF INDIVIDUALS WITH DISEASE-CAUSING VARIANTS IN COL4A3/COL4A4 ASSOCIATED WITH TYPE-IV-COLLAGEN-RELATED NEPHROPATHY (ALPORT SYNDROME AND THIN BASEMENT MEMBRANE NEPHROPATHY)
Hannes, Simmendinger
Maria, Riedhammer Korbinian
Velibor, Tasic
Jovana, Putnik
Nora, Abazi-emini
Natasa, Stajic
Marc, Weidenbusch
Ludwig, Patzer
Adrian, Lungu
Gordana, Milosevski-lomic
Matthias, Braunisch
Roman, Guenthner
Jasmina, Comic
Julia, Hoefele
PEDIATRIC NEPHROLOGY, 2022, 37 (11) : 2854 - 2854

← 1 2 3 →