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

[1] Clinical delineation, sex differences, and genotype-phenotype correlation in pathogenic KDM6A variants causing X-linked Kabuki syndrome type 2
Faundes, Victor
Goh, Stephanie
Akilapa, Rhoda
Bezuidenhout, Heidre
Bjornsson, Hans T.
Bradley, Lisa
Brady, Angela F.
Brischoux-Boucher, Elise
Brunner, Han
Bulk, Saskia
Canham, Natalie
Cody, Declan
Dentici, Maria Lisa
Digilio, Maria Cristina
Elmslie, Frances
Fry, Andrew E.
Gill, Harinder
Hurst, Jane
Johnson, Diana
Julia, Sophie
Lachlan, Katherine
Lebel, Robert Roger
Byler, Melissa
Gershon, Eric
Lemire, Edmond
Gnazzo, Maria
Lepri, Francesca Romana
Marchese, Antonia
McEntagart, Meriel
McGaughran, Julie
Mizuno, Seiji
Okamoto, Nobuhiko
Rieubland, Claudine
Rodgers, Jonathan
Sasaki, Erina
Scalais, Emmanuel
Scurr, Ingrid
Suri, Mohnish
van der Burgt, Ineke
Matsumoto, Naomichi
Miyake, Noriko
Benoit, Valerie
Lederer, Damien
Banka, Siddharth
GENETICS IN MEDICINE, 2021, 23 (07) : 1202 - 1210
[2] A Three Generation X-Linked Family With Kabuki Syndrome Phenotype and a Frameshift Mutation in KDM6A
Lederer, Damien
Shears, Debbie
Benoit, Valerie
Verellen-Dumoulin, Christine
Maystadt, Isabelle
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (05) : 1289 - 1292
[3] Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2
Boegershausen, Nina
Gatinois, Vincent
Riehmer, Vera
Kayserili, Huelya
Becker, Jutta
Thoenes, Michaela
Simsek-Kiper, Pelin OEzlem
Barat-Houari, Mouna
Elcioglu, Nursel H.
Wieczorek, Dagmar
Tinschert, Sigrid
Sarrabay, Guillaume
Strom, Tim M.
Fabre, Aurelie
Baynam, Gareth
Sanchez, Elodie
Nuernberg, Gudrun
Altunoglu, Umut
Capri, Yline
Isidor, Bertrand
Lacombe, Didier
Corsini, Carole
Cormier-Daire, Valerie
Sanlaville, Damien
Giuliano, Fabienne
Le Quan Sang, Kim-Hanh
Kayirangwa, Honorine
Nuernberg, Peter
Meitinger, Thomas
Boduroglu, Koray
Zoll, Barbara
Lyonnet, Stanislas
Tzschach, Andreas
Verloes, Alain
Di Donato, Nataliya
Touitou, Isabelle
Netzer, Christian
Li, Yun
Genevieve, David
Yigit, Goekhan
Wollnik, Bernd
HUMAN MUTATION, 2016, 37 (09) : 847 - 864
[4] Genotype-Phenotype Correlation in X-Linked Alport Syndrome
Bekheirnia, Mir Reza
Reed, Berenice
Gregory, Martin C.
McFann, Kim
Shamshirsaz, Alireza Abdollah
Masoumi, Amirali
Schrier, Robert W.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2010, 21 (05): : 876 - 883
[5] Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)
Banka, S.
Lederer, D.
Benoit, V.
Jenkins, E.
Howard, E.
Bunstone, S.
Kerr, B.
McKee, S.
Lloyd, I. C.
Shears, D.
Stewart, H.
White, S. M.
Savarirayan, R.
Mancini, G. M. S.
Beysen, D.
Cohn, R. D.
Grisart, B.
Maystadt, I.
Donnai, D.
CLINICAL GENETICS, 2015, 87 (03) : 252 - 258
[6] Two Novel Pathogenic MID1 Variants and Genotype-Phenotype Correlation Reanalysis in X-Linked Opitz G/BBB Syndrome
Maia, Nuno
Sa, Maria J. Nabais
Tkachenko, Nataliya
Soares, Gabriela
Marques, Isabel
Rodrigues, Barbara
Fortuna, Ana M.
Santos, Rosario
de Brouwer, Arjan P. M.
Jorge, Paula
MOLECULAR SYNDROMOLOGY, 2018, 9 (01) : 45 - 51
[7] Natural History and Genotype-Phenotype Correlation in Female X-Linked Alport Syndrome
Yamamura, Tomohiko
Nozu, Kandai
Fu, Xue Jun
Nozu, Yoshimi
Ye, Ming Juan
Shono, Akemi
Yamanouchi, Satoko
Minamikawa, Shogo
Morisada, Naoya
Nakanishi, Koichi
Shima, Yuko
Yoshikawa, Norishige
Ninchoji, Takeshi
Morioka, Ichiro
Kaito, Hiroshi
Iijima, Kazumoto
KIDNEY INTERNATIONAL REPORTS, 2017, 2 (05): : 850 - 855
[8] Detection of Splicing Abnormalities and Genotype-Phenotype Correlation in X-linked Alport Syndrome
Horinouchi, Tomoko
Nozu, Kandai
Yamamura, Tomohiko
Minamikawa, Shogo
Omori, Takashi
Nakanishi, Keita
Fujimura, Junya
Ashida, Akira
Kitamura, Mineaki
Kawano, Mitsuhiro
Shimabukuro, Wataru
Kitabayashi, Chizuko
Imafuku, Aya
Tamagaki, Keiichi
Kamei, Koichi
Okamoto, Kenjirou
Fujinaga, Shuichiro
Oka, Masafumi
Igarashi, Toru
Miyazono, Akinori
Sawanobori, Emi
Fujimaru, Rika
Nakanishi, Koichi
Shima, Yuko
Matsuo, Masafumi
Ye, Ming Juan
Nozu, Yoshimi
Morisada, Naoya
Kaito, Hiroshi
Iijima, Kazumoto
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, 2018, 29 (08): : 2244 - 2254
[9] Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation
Parmeggiani, Francesco
Barbaro, Vanessa
Migliorati, Angelo
Raffa, Paolo
Nespeca, Patrizia
De Nadai, Katia
Del Vecchio, Claudia
Palu, Giorgio
Parolin, Cristina
Di Iorio, Enzo
EUROPEAN JOURNAL OF OPHTHALMOLOGY, 2017, 27 (02) : 240 - 248
[10] Mosaic mutation in KDM6B gene in patient with Kabuki syndrome: analysis of genotype-phenotype correlation
Ciara, E.
Wesol-Kucharska, D.
Wicher, D.
Piekutowska-Abramczuk, D.
Kosinska, J.
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EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 362 - 362

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