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

[31] Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher disease: Duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not [J].

Mimault, C ;

Giraud, G ;

Courtois, V ;

Cailloux, F ;

Boire, JY ;

Dastugue, B ;

Boespflug-Tanguy, O .

AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (02) :360-369

[32] Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function [J].

Nagamani, Sandesh C. S. ;

Erez, Ayelet ;

Probst, Frank J. ;

Bader, Patricia ;

Evans, Patricia ;

Baker, Linda A. ;

Fang, Ping ;

Bertin, Terry ;

Hixson, Patricia ;

Stankiewicz, Pawel ;

Nelson, David ;

Patel, Ankita ;

Cheung, Sau Wai .

NEUROGENETICS, 2012, 13 (04) :333-339

[33] Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature [J].

Nemos, C. ;

Lambert, L. ;

Giuliano, F. ;

Doray, B. ;

Roubertie, A. ;

Goldenberg, A. ;

Delobel, B. ;

Layet, V. ;

N'guyen, M. A. ;

Saunier, A. ;

Verneau, F. ;

Jonveaux, P. ;

Philippe, C. .

CLINICAL GENETICS, 2009, 76 (04) :357-371

[34] Xp11.22 Microduplications Including HUWE1: Case Report and Literature Review [J].

Orivoli, Sonia ;

Pavlidis, Elena ;

Cantalupo, Gaetano ;

Pezzella, Marianna ;

Zara, Federico ;

Garavelli, Livia ;

Pisani, Francesco ;

Piccolo, Benedetta .

NEUROPEDIATRICS, 2016, 47 (01) :51-56

[35]

Piton A, 2013, AM J HUM GENET, V93, P368, DOI 10.1016/j.ajhg.2013.06.013

[36] Whole ARX Gene Duplication is Compatible With Normal Intellectual Development [J].

Popovici, Cornel ;

Busa, Tiffany ;

Boute, Odile ;

Thuresson, Ann-Charlotte ;

Perret, Odile ;

Sigaudy, Sabine ;

Soedergren, Tommy ;

Andrieux, Joris ;

Moncla, Anne ;

Philip, Nicole .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (09) :2324-2327

[37] A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor [J].

Ramser, J ;

Abidi, FE ;

Burckle, CA ;

Lenski, C ;

Toriello, H ;

Wen, GP ;

Lubs, HA ;

Engert, S ;

Stevenson, RE ;

Meindl, A ;

Schwartz, CE ;

Nguyen, G .

HUMAN MOLECULAR GENETICS, 2005, 14 (08) :1019-1027

[38] Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition [J].

Rio, Marlene ;

Malan, Valerie ;

Boissel, Sarah ;

Toutain, Annick ;

Royer, Ghislaine ;

Gobin, Stephanie ;

Morichon-Delvallez, Nicole ;

Turleau, Catherine ;

Bonnefont, Jean-Paul ;

Munnich, Arnold ;

Vekemans, Michel ;

Colleaux, Laurence .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2010, 18 (03) :285-290

[39] X-Linked intellectual disability update 2022 [J].

Schwartz, Charles E. ;

Louie, Raymond J. ;

Toutain, Annick ;

Skinner, Cindy ;

Friez, Michael J. ;

Stevenson, Roger E. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023, 191 (01) :144-159

[40] 9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features [J].

Sismani, Carolina ;

Anastasiadou, Violetta ;

Kousoulidou, Ludmila ;

Parkel, Sven ;

Koumbaris, George ;

Zilina, Olga ;

Bashiardes, Stavros ;

Spanou, Elena ;

Kurg, Ants ;

Patsalis, Philippos C. .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2011, 54 (05) :E510-E515

← 1 2 3 4 5 →