Literature DB >> 22487416

Co-existence of other copy number variations with 22q11.2 deletion or duplication: a modifier for variable phenotypes of the syndrome?

Deling Li1, Mustafa Tekin, Maria Buch, Yao-Shan Fan.   

Abstract

BACKGROUND: The phenotype in patients with a 22q11.2 deletion or duplication can be extremely variable, and the causes of such as variations are not well known.
RESULTS: We observed additional copy number variations (CNVs) in 2 of 15 cases with a 22q11.2 deletion or duplication. Both cases were newborn babies referred for severe congenital heart defects. The first case had a deletion with a size of approximately 1.56 Mb involving multiple genes including STS in the Xp22.31 region along with a 22q11.2 deletion. The second case had a duplication of 605 kb in the 15q13.3 region encompassing CHRNA7 and a deletion of 209 kb involving the RBFOX1 gene in the 16p13.2 region, in addition to 22q11.2 duplication. DISCUSSION: Our observations have shown that additional CNVs are not rare (2/15, 13%) in patients with a 22q11.2 deletion or duplication. We speculate that these CNVs may contribute to phenotype variations of 22q11.2 microdeletion/duplication syndromes as genomic modifiers.

Entities:  

Year:  2012        PMID： 22487416      PMCID： PMC3349586          DOI： 10.1186/1755-8166-5-18

Source DB:  PubMed          Journal:  Mol Cytogenet        ISSN： 1755-8166            Impact factor:   2.009


  17 in total

Review 1.  Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications.

Authors:  A Swillen; A Vogels; K Devriendt; J P Fryns
Journal:  Am J Med Genet       Date:  2000

2.  Incidence of microduplication 22q11.2 in patients referred for FISH testing for velo cardiofacial and DiGeorge syndromes.

Authors:  Philip D Cotter; Hieu Nguyen; Gloria Tung; Katherine A Rauen
Journal:  Eur J Hum Genet       Date:  2005-12       Impact factor: 4.246

3.  The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies.

Authors:  Céline de La Rochebrochard; Géraldine Joly-Hélas; Alice Goldenberg; Isabelle Durand; Annie Laquerrière; Valentine Ickowicz; Pascale Saugier-Veber; Danièle Eurin; Hélène Moirot; Alain Diguet; Fabrice de Kergal; Coralie Tiercin; Bertrand Mace; Loïc Marpeau; Thierry Frebourg
Journal:  Am J Med Genet A       Date:  2006-07-15       Impact factor: 2.802

4.  Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2.

Authors:  A Rauch; S Zink; C Zweier; C T Thiel; A Koch; R Rauch; J Lascorz; U Hüffmeier; M Weyand; H Singer; M Hofbeck
Journal:  J Med Genet       Date:  2005-04-14       Impact factor: 6.318

5.  Association of syndromic mental retardation and autism with 22q11.2 duplication.

Authors:  A Lo-Castro; C Galasso; C Cerminara; N El-Malhany; S Benedetti; A M Nardone; P Curatolo
Journal:  Neuropediatrics       Date:  2009-12-17       Impact factor: 1.947

6.  The Philadelphia story: the 22q11.2 deletion: report on 250 patients.

Authors:  D M McDonald-McGinn; R Kirschner; E Goldmuntz; K Sullivan; P Eicher; M Gerdes; E Moss; C Solot; P Wang; I Jacobs; S Handler; C Knightly; K Heher; M Wilson; J E Ming; K Grace; D Driscoll; P Pasquariello; P Randall; D Larossa; B S Emanuel; E H Zackai
Journal:  Genet Couns       Date:  1999

7.  X-linked ichthyosis (steroid sulfatase deficiency) is associated with increased risk of attention deficit hyperactivity disorder, autism and social communication deficits.

Authors:  L Kent; J Emerton; V Bhadravathi; E Weisblatt; G Pasco; L R Willatt; R McMahon; J R W Yates
Journal:  J Med Genet       Date:  2008-04-15       Impact factor: 6.318

8.  Psychiatric disorders and intellectual functioning throughout development in velocardiofacial (22q11.2 deletion) syndrome.

Authors:  Tamar Green; Doron Gothelf; Bronwyn Glaser; Martin Debbane; Amos Frisch; Moshe Kotler; Abraham Weizman; Stephan Eliez
Journal:  J Am Acad Child Adolesc Psychiatry       Date:  2009-11       Impact factor: 8.829

9.  Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.

Authors:  Regina E Ensenauer; Adewale Adeyinka; Heather C Flynn; Virginia V Michels; Noralane M Lindor; D Brian Dawson; Erik C Thorland; Cindy Pham Lorentz; Jennifer L Goldstein; Marie T McDonald; Wendy E Smith; Elba Simon-Fayard; Alan A Alexander; Anita S Kulharya; Rhett P Ketterling; Robin D Clark; Syed M Jalal
Journal:  Am J Hum Genet       Date:  2003-10-02       Impact factor: 11.025

10.  Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

Authors:  Zhishuo Ou; Jonathan S Berg; Hagith Yonath; Victoria B Enciso; David T Miller; Jonathan Picker; Tiffanee Lenzi; Catherine E Keegan; Vernon R Sutton; John Belmont; A Craig Chinault; James R Lupski; Sau Wai Cheung; Elizabeth Roeder; Ankita Patel
Journal:  Genet Med       Date:  2008-04       Impact factor: 8.822
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  3 in total

1.  Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways.

Authors:  Erin M Hagen; Robert J Sicko; Denise M Kay; Shannon L Rigler; Aggeliki Dimopoulos; Shabbir Ahmad; Margaret H Doleman; Ruzong Fan; Paul A Romitti; Marilyn L Browne; Michele Caggana; Lawrence C Brody; Gary M Shaw; Laura L Jelliffe-Pawlowski; James L Mills
Journal:  Hum Genet       Date:  2016-09-15       Impact factor: 4.132

2.  Distal 22q11.2 Microduplication: Case Report and Review of the Literature.

Authors:  Elana Pinchefsky; Laurence Laneuville; Myriam Srour
Journal:  Child Neurol Open       Date:  2017-11-01

3.  Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.

Authors:  Karen J Woodward; Julie Stampalia; Hannah Vanyai; Hashika Rijhumal; Kim Potts; Fiona Taylor; Joanne Peverall; Tanya Grumball; Soruba Sivamoorthy; Hamid Alinejad-Rokny; John Wray; Andrew Whitehouse; Lakshmi Nagarajan; Jacqueline Scurlock; Sabine Afchani; Matthew Edwards; Ashleigh Murch; John Beilby; Gareth Baynam; Cathy Kiraly-Borri; Fiona McKenzie; Julian I T Heng
Journal:  Mol Genet Genomic Med       Date:  2019-01-04       Impact factor: 2.183
  3 in total

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