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Molecular genetics of 22q11.2 deletion syndrome

Morrow, BE; McDonald-McGinn, DM; Emanuel, BS; Vermeesch, JR; Scambler, PJ; (2018) Molecular genetics of 22q11.2 deletion syndrome. American Journal of Medical Genetics Part A , 176 (10) pp. 2070-2081. 10.1002/ajmg.a.40504. Green open access

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Abstract

The 22q11.2 deletion syndrome (22q11.2DS) is a congenital malformation and neuropsychiatric disorder caused by meiotic chromosome rearrangements. One of the goals of this review is to summarize the current state of basic research studies of 22q11.2DS. It highlights efforts to understand the mechanisms responsible for the 22q11.2 deletion that occurs in meiosis. This mechanism involves the four sets of low copy repeats (LCR22) that are dispersed in the 22q11.2 region and the deletion is mediated by nonallelic homologous recombination events. This review also highlights selected genes mapping to the 22q11.2 region that may contribute to the typical clinical findings associated with the disorder and explain that mutations in genes on the remaining allele can uncover rare recessive conditions. Another important aspect of 22q11.2DS is the existence of phenotypic heterogeneity. While some patients are mildly affected, others have severe medical, cognitive, and/or psychiatric challenges. Variability may be due in part to the presence of genetic modifiers. This review discusses current genome‐wide efforts to identify such modifiers that could shed light on molecular pathways required for normal human development, cognition or behavior.

Type: Article
Title: Molecular genetics of 22q11.2 deletion syndrome
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/ajmg.a.40504
Publisher version: https://doi.org/10.1002/ajmg.a.40504
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, 22q11.2 deletion syndrome, chromosome rearrangements, congenital malformation, birth defect syndrome, pharyngeal apparatus, DiGeorge syndrome, velo-cardio-facial syndrome, CARDIO-FACIAL SYNDROME, BERNARD-SOULIER-SYNDROME, LOW-COPY REPEATS, GLYCOPROTEIN-IB-BETA, CONGENITAL HEART-DEFECTS, ARCH ARTERY DEVELOPMENT, OF-FUNCTION MUTATION, MONOZYGOTIC TWINS, DIGEORGE-SYNDROME, CHROMOSOME 22Q11
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Biology and Cancer Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10063573
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