Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development

El‐Hattab AW, Bournat J, Eng PA, Wu JBS, Walker BA, Stankiewicz P, Cheung SW, Brown CW. Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development. We report an ∼1.3 Mb tandem duplication at Xp11.23p11.3 in an 11‐year‐old boy with pleasant personality, hyperac...

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Published in:	Clinical genetics Vol. 79; no. 6; pp. 531 - 538
Main Authors:	El-Hattab, AW, Bournat, J, Eng, PA, Wu, JBS, Walker, BA, Stankiewicz, P, Cheung, SW, Brown, CW
Format:	Journal Article
Language:	English
Published:	Oxford, UK Blackwell Publishing Ltd 01-06-2011 Wiley-Blackwell
Subjects:	Abnormalities, Multiple - genetics Adolescent Adult Adult and adolescent clinical studies array CGH Autism Biological and medical sciences Blood Child Child, Preschool Children & youth Chromosome Duplication Chromosomes, Human, X - genetics Cognition Cognition Disorders - genetics Comparative Genomic Hybridization Craniofacial Abnormalities - genetics craniofacial growth Female Fundamental and applied biological sciences. Psychology gene duplication Gene expression General aspects. Genetic counseling Genes, X-Linked Genetic disorders Genetics of eukaryotes. Biological and molecular evolution Genotype & phenotype Humans Hyperactivity Intellectual deficiency Iris Language Learning Male Medical genetics Medical sciences Mental Disorders - genetics Mental retardation Mental Retardation, X-Linked - genetics Microencephaly Molecular and cellular biology Mutation Neurotransmitter release Overexpression Personality Polymerase chain reaction Psychology. Psychoanalysis. Psychiatry Psychomotor Performance Psychopathology. Psychiatry RNA Seizures Syndrome Transcription, Genetic Williams-Beuren syndrome X chromosome X-linked mental retardation Xp11.22p11.23 duplication Xp11.23p11.3 duplication Chromosomal aberration Human Sex linked character Xp11.23p11.3 duplication array CGH Developmental disorder Cognition Xp11.22p11.23 duplication Mental retardation Genetic disease Williams syndrome Williams-Beuren syndrome Intellectual deficiency Development Abnormal chromosome Genetics Craniofacial X-Chromosome Behavior X-linked mental retardation Chromosome duplication
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Summary:	El‐Hattab AW, Bournat J, Eng PA, Wu JBS, Walker BA, Stankiewicz P, Cheung SW, Brown CW. Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development. We report an ∼1.3 Mb tandem duplication at Xp11.23p11.3 in an 11‐year‐old boy with pleasant personality, hyperactivity, learning and visual‐spatial difficulties, relative microcephaly, long face, stellate iris pattern, and periorbital fullness. This clinical presentation is milder and distinct from that of patients with partially overlapping Xp11.22p11.23 duplications which have been described in males and females with intellectual disability, language delay, autistic behaviors, and seizures. The duplicated region harbors three known X‐linked mental retardation genes: FTSJ1, ZNF81, and SYN1. Quantitative polymerase chain reaction from whole blood total RNA showed increased expression of three genes located in the duplicated region: EBP, WDR13, and ZNF81. Thus, over‐expression of genes in the interval may contribute to the observed phenotype. Many of the features seen in this patient are present in individuals with Williams‐Beuren syndrome (WBS). Interestingly, the SYN1 gene within the duplicated interval, as well as the STX1A gene, within the WBS critical region, co‐localize to presynaptic active zones, and play important roles in neurotransmitter release.
Bibliography:	istex:1E051C2DEB517EC4997C862FF0ABF30143FC1FD1 ArticleID:CGE1496 ark:/67375/WNG-6PB80ZH0-7 ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 ObjectType-Article-2 ObjectType-Feature-1
ISSN:	0009-9163 1399-0004
DOI:	10.1111/j.1399-0004.2010.01496.x