Clinical and molecular characterization study of Chinese Kabuki syndrome in Hong Kong

被引：12

作者：

So, Po L. ^{[1
]}

Luk, Ho M. ^{[2
]}

Yu, Kris P. T. ^{[2
]}

Cheng, Shirley S. W. ^{[2
]}

Hau, Edgar W. L. ^{[2
]}

Ho, Stephanie K. L. ^{[2
]}

Lam, Stephen T. S. ^{[3
]}

Lo, Ivan F. M. ^{[2
]}

机构：

[1] Tuen Mun Hosp, Dept Obstet & Gynecol, Hong Kong, Peoples R China

[2] Hong Kong Childrens Hosp, Dept Hlth, Clin Genet Serv, Hong Kong, Peoples R China

[3] Hong Kong Sanat & Hosp, Clin Genet Serv, Hong Kong, Peoples R China

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2021年 / 185卷 / 03期

关键词：

Chinese; Kabuki syndrome; natural history; MUTATIONS; MLL2; KDM6A; UTX; GROWTH; KMT2D; IDENTIFICATION; MECHANISMS; JMJD3; EARS;

D O I：

10.1002/ajmg.a.62003

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Kabuki syndrome (OMIM #147920 and 300867) is a rare genetic disorder characterized by a distinctive facial gestalt, intellectual disability and multiple congenital anomalies. We summarized the clinical features and molecular findings of the Kabuki syndrome (KS) patients diagnosed in Hong Kong between January 1991 and December 2019. There were 21 molecularly confirmed KS. Twenty of them were due to pathogenic KMT2D variants and one patient had KDM6A deletion. Nine KMT2D variants were novel. The clinical phenotype of our Chinese KS patients was largely comparable with that reported in patients of other ethnicities. This study expands the mutation spectrum but also provide important natural history information of Chinese KS in literature.

引用

页码：675 / 686

页数：12

共 40 条

[1]

Adam M.P., 2011, GENEREVIEWS

[2] Kabuki syndrome: international consensus diagnostic criteria [J].

Adam, Margaret P. ;

Banka, Siddharth ;

Bjornsson, Hans T. ;

Bodamer, Olaf ;

Chudley, Albert E. ;

Harris, Jaqueline ;

Kawame, Hiroshi ;

Lanpher, Brendan C. ;

Lindsley, Andrew W. ;

Merla, Giuseppe ;

Miyake, Noriko ;

Okamoto, Nobuhiko ;

Stumpel, Constanze T. ;

Niikawa, Norio .

JOURNAL OF MEDICAL GENETICS, 2019, 56 (02) :89-95

[3] UTX and JMJD3 are histone H3K27 demethylases involved in HOX gene regulation and development [J].

Agger, Karl ;

Cloos, Paul A. C. ;

Christensen, Jesper ;

Pasini, Diego ;

Rose, Simon ;

Rappsilber, Juri ;

Issaeva, Irina ;

Canaani, Eli ;

Salcini, Anna Elisabetta ;

Helin, Kristian .

NATURE, 2007, 449 (7163) :731-U10

[4] Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2) [J].

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

[5] How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum [J].

Banka, Siddharth ;

Veeramachaneni, Ratna ;

Reardon, William ;

Howard, Emma ;

Bunstone, Sancha ;

Ragge, Nicola ;

Parker, Michael J. ;

Crow, Yanick J. ;

Kerr, Bronwyn ;

Kingston, Helen ;

Metcalfe, Kay ;

Chandler, Kate ;

Magee, Alex ;

Stewart, Fiona ;

McConnell, Vivienne P. M. ;

Donnelly, Deirdre E. ;

Berland, Siren ;

Houge, Gunnar ;

Morton, Jenny E. ;

Oley, Christine ;

Revencu, Nicole ;

Park, Soo-Mi ;

Davies, Sally J. ;

Fry, Andrew E. ;

Lynch, Sally Ann ;

Gill, Harinder ;

Schweiger, Susann ;

Lam, Wayne W. K. ;

Tolmie, John ;

Mohammed, Shehla N. ;

Hobson, Emma ;

Smith, Audrey ;

Blyth, Moira ;

Bennett, Christopher ;

Vasudevan, Pradeep C. ;

Garcia-Minaur, Sixto ;

Henderson, Alex ;

Goodship, Judith ;

Wright, Michael J. ;

Fisher, Richard ;

Gibbons, Richard ;

Price, Susan M. ;

de Silva, Deepthi C. ;

Temple, I. Karen ;

Collins, Amanda L. ;

Lachlan, Katherine ;

Elmslie, Frances ;

McEntagart, Meriel ;

Castle, Bruce ;

Clayton-Smith, Jill .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2012, 20 (04) :381-388

[6] Unmasking Kabuki syndrome [J].

Boegershausen, N. ;

Wollnik, B. .

CLINICAL GENETICS, 2013, 83 (03) :201-211

[7] Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2 [J].

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

[8] CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions [J].

Butcher, Darci T. ;

Cytrynbaum, Cheryl ;

Turinsky, Andrei L. ;

Siu, Michelle T. ;

Inbar-Feigenberg, Michal ;

Mendoza-Londono, Roberto ;

Chitayat, David ;

Walker, Susan ;

Machado, Jerry ;

Caluseriu, Oana ;

Dupuis, Lucie ;

Grafodatskaya, Daria ;

Reardon, William ;

Gilbert-Dussardier, Brigitte ;

Verloes, Alain ;

Bilan, Frederic ;

Milunsky, Jeff M. ;

Basran, Raveen ;

Papsin, Blake ;

Stockley, Tracy L. ;

Scherer, Stephen W. ;

Choufani, Sanaa ;

Brudno, Michael ;

Weksberg, Rosanna .

AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 100 (05) :773-788

[9] Burkitt lymphoma in a patient with Kabuki syndrome carrying a novel KMT2D mutation [J].

de Billy, Emmanuel ;

Strocchio, Luisa ;

Cacchione, Antonella ;

Agolini, Emanuele ;

Gnazzo, Maria ;

Novelli, Antonio ;

de Vito, Rita ;

Capolino, Rossella ;

Digilio, Maria Cristina ;

Caruso, Roberta ;

Mastronuzzi, Angela ;

Locatelli, Franco .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 179 (01) :113-117

[10] Kabuki syndrome: clinical and molecular diagnosis in the first year of life [J].

Dentici, Maria Lisa ;

Di Pede, Alessandra ;

Lepri, Francesca Romana ;

Gnazzo, Maria ;

Lombardi, Mary Haywood ;

Auriti, Cinzia ;

Petrocchi, Stefano ;

Pisaneschi, Elisa ;

Bellacchio, Emanuele ;

Capolino, Rossella ;

Braguglia, Annabella ;

Angioni, Adriano ;

Dotta, Andrea ;

Digilio, Maria Cristina ;

Dallapiccola, Bruno .

ARCHIVES OF DISEASE IN CHILDHOOD, 2015, 100 (02) :158-164

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