Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability

被引：2

作者：

Sahajpal, Nikhil ^{[1
]}

Ziats, Catherine ^{[2
]}

Chaubey, Alka ^{[3
]}

Dupont, Barbara R. ^{[1
]}

Abidi, Fatima ^{[1
]}

Schwartz, Charles E. ^{[4
]}

Stevenson, Roger E. ^{[5
]}

机构：

[1] Greenwood Genet Ctr, Diagnost Labs, Greenwood, SC USA

[2] Shodair Childrens Hosp, Dept Psychiat, Helena, MT USA

[3] Bionano Genom, Clin & Sci Affairs, San Diego, CA USA

[4] Michigan State Univ, Dept Pediat & Human Dev, Grand Rapids, MI USA

[5] Equanimitas, Greenwood, SC 29646 USA

来源：

CLINICAL GENETICS | 2024年 / 105卷 / 02期

关键词：

copy number variants; gene duplication; syndromes; X chromosome; X-linked intellectual disability; MENTAL-RETARDATION; DEVELOPMENTAL DELAY; SHORT STATURE; MUTATIONS; KIAA2022; FEMALES; ATRX; XQ13.3-Q21.1; GYNECOMASTIA; DISORDER;

D O I：

10.1111/cge.14445

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Duplication of all genes associated with X-linked intellectual disability (XLID) have been reported but the majority of the duplications include more than one XLID gene. It is exceptional for whole XLID gene duplications to cause the same phenotype as sequence variants or deletions of the same gene. Duplication of PLP1, the gene associated with Pelizaeus-Merzbacher syndrome, is the most notable duplication of this type. More commonly, duplication of XLID genes results in very different phenotypes than sequence alterations or deletions. Duplication of MECP2 is widely recognized as a duplication of this type, but a number of others exist. The phenotypes associated with gene duplications are often milder than those caused by deletions and sequence variants. Among some duplications that are clinically significant, marked skewing of X-inactivation in female carriers has been observed. This report describes the phenotypic consequences of duplication of 22 individual XLID genes, of which 10 are described for the first time. Location of single XLID gene duplications (left) and location of all 164 XLID genes (right).image

引用

页码：173 / 184

页数：12

共 50 条

[21] X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes [J].

Hu, H. ;

Haas, S. A. ;

Chelly, J. ;

Van Esch, H. ;

Raynaud, M. ;

de Brouwer, A. P. M. ;

Weinert, S. ;

Froyen, G. ;

Frints, S. G. M. ;

Laumonnier, F. ;

Zemojtel, T. ;

Love, M. I. ;

Richard, H. ;

Emde, A-K ;

Bienek, M. ;

Jensen, C. ;

Hambrock, M. ;

Fischer, U. ;

Langnick, C. ;

Feldkamp, M. ;

Wissink-Lindhout, W. ;

Lebrun, N. ;

Castelnau, L. ;

Rucci, J. ;

Montjean, R. ;

Dorseuil, O. ;

Billuart, P. ;

Stuhlmann, T. ;

Shaw, M. ;

Corbett, M. A. ;

Gardner, A. ;

Willis-Owen, S. ;

Tan, C. ;

Friend, K. L. ;

Belet, S. ;

van Roozendaal, K. E. P. ;

Jimenez-Pocquet, M. ;

Moizard, M-P ;

Ronce, N. ;

Sun, R. ;

O'Keeffe, S. ;

Chenna, R. ;

Van Boemmel, A. ;

Goeke, J. ;

Hackett, A. ;

Field, M. ;

Christie, L. ;

Boyle, J. ;

Haan, E. ;

Nelson, J. .

MOLECULAR PSYCHIATRY, 2016, 21 (01) :133-148

[22]

Jazayeri R, 2015, ARCH IRAN MED, V18, P670, DOI 0151810/AIM.007

[23] Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation [J].

Kleefstra, T ;

Yntema, HG ;

Oudakker, AR ;

Banning, MJG ;

Kalscheuer, VM ;

Chelly, J ;

Moraine, C ;

Ropers, HH ;

Fryns, JP ;

Janssen, IM ;

Sistermans, EA ;

Nillesen, WN ;

de Vries, LBA ;

Hamel, BCJ ;

van Bokhoven, H .

JOURNAL OF MEDICAL GENETICS, 2004, 41 (05) :394-399

[24] Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications [J].

Liu, Pengfei ;

Erez, Ayelet ;

Nagamani, Sandesh C. Sreenath ;

Bi, Weimin ;

Carvalho, Claudia M. B. ;

Simmons, Alexandra D. ;

Wiszniewska, Joanna ;

Fang, Ping ;

Eng, Patricia A. ;

Cooper, M. Lance ;

Sutton, V. Reid ;

Roeder, Elizabeth R. ;

Bodensteiner, John B. ;

Delgado, Mauricio R. ;

Prakash, Siddharth K. ;

Belmont, John W. ;

Stankiewicz, Pawel ;

Berg, Jonathan S. ;

Shinawi, Marwan ;

Patel, Ankita ;

Cheung, Sau Wai ;

Lupski, James R. .

HUMAN MOLECULAR GENETICS, 2011, 20 (10) :1975-1988

[25] Xq13.2q21.1 Duplication Encompassing the ATRX Gene in a Man With Mental Retardation, Minor Facial and Genital Anomalies, Short Stature and Broad Thorax [J].

Lugtenberg, Dorien ;

de Brouwer, Arjan P. M. ;

Oudakker, Astrid R. ;

Pfundt, Rolph ;

Hamel, Ben C. J. ;

van Bokhoven, Hans ;

Bongers, Ernie M. H. F. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (04) :760-766

[26] Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy [J].

Lugtenberg, Dorien ;

Kleefstra, Tjitske ;

Oudakker, Astrid R. ;

Nillesen, Willy M. ;

Yntema, Helger G. ;

Tzschach, Andreas ;

Raynaud, Martine ;

Rating, Dietz ;

Journel, Hubert ;

Chelly, Jamel ;

Goizet, Cyril ;

Lacombe, Didier ;

Pedespan, Jean-Michel ;

Echenne, Bernard ;

Tariverdian, Gholamali ;

O'Rourke, Declan ;

King, Mary D. ;

Green, Andrew ;

van Kogelenberg, Margriet ;

Van Esch, Hilde ;

Gecz, Jozef ;

Hamel, Ben C. J. ;

van Bokhoven, Hans ;

de Brouwer, Arjan P. M. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2009, 17 (04) :444-453

[27] Structural variation mutagenesis of the human genome: Impact on disease and evolution [J].

Lupski, James R. .

ENVIRONMENTAL AND MOLECULAR MUTAGENESIS, 2015, 56 (05) :419-436

[28] Duplication at Xq13.3-q21.1 With Syndromic Intellectual Disability, a Probable Role for the ATRX Gene [J].

Martinez, Francisco ;

Rosello, Monica ;

Mayo, Sonia ;

Monfort, Sandra ;

Oltra, Silvestre ;

Orellana, Carmen .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (04) :918-923

[29] Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication [J].

Maurin, Marie-Laure ;

Arfeuille, Chloe ;

Sonigo, Pascale ;

Rondeau, Sophie ;

Vekemans, Michel ;

Turleau, Catherine ;

Ville, Yves ;

Malan, Valerie .

CYTOGENETIC AND GENOME RESEARCH, 2017, 151 (03) :115-118

[30] Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome [J].

McLarren, Keith W. ;

Severson, Tesa M. ;

du Souich, Christele ;

Stockton, David W. ;

Kratz, Lisa E. ;

Cunningham, David ;

Hendson, Glenda ;

Morin, Ryan D. ;

Wu, Diane ;

Paul, Jessica E. ;

An, Jianghong ;

Nelson, Tanya N. ;

Chou, Athena ;

DeBarber, Andrea E. ;

Merkens, Louise S. ;

Michaud, Jacques L. ;

Waters, Paula J. ;

Yin, Jingyi ;

McGillivray, Barbara ;

Demos, Michelle ;

Rouleau, Guy A. ;

Grzeschik, Karl-Heinz ;

Smith, Raffaella ;

Tarpey, Patrick S. ;

Shears, Debbie ;

Schwartz, Charles E. ;

Gecz, Jozef ;

Stratton, Michael R. ;

Arbour, Laura ;

Hurlburt, Jane ;

Van Allen, Margot I. ;

Herman, Gail E. ;

Zhao, Yongjun ;

Moore, Richard ;

Kelley, Richard I. ;

Jones, Steven J. M. ;

Steiner, Robert D. ;

Raymond, F. Lucy ;

Marra, Marco A. ;

Boerkoel, Cornelius F. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 87 (06) :905-914

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