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Structural variation of chromosomes in autism spectrum disorder.
Functional impact of global rare copy number variation in autism spectrum disorders
The genome-wide characteristics of rare (<1% frequency) copy number variation in ASD are analysed using dense genotyping arrays to reveal many new genetic and functional targets in ASD that may lead to final connected pathways.
Discovery of cross-reactive probes and polymorphic CpGs in the Illumina Infinium HumanMethylation450 microarray
6% of the array probes can potentially generate spurious signals because of co-hybridization to alternate genomic sequences highly homologous to the intended targets, which could lead investigators to mistakenly infer the existence of significant autosomal sex-associated methylation.
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome.
It is proposed that KvDMR1 and/or its associated antisense RNA (KvLQT1-AS) represents an additional imprinting control element or center in the human 11p15.5 and mouse distal 7 imprinted domains.
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Exome sequencing identified de novo germline or postzygotic mutations in three core components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway, highlighting the central role of PI3K-AKT signaling in vascular, limb and brain development.
Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.
This is a review of recommendations for diagnostic criteria, differential diagnosis, and guidelines for the evaluation of patients on Proteus syndrome held in March 1998 at the National Institutes of Health.
Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome.
It is shown here that the incidence of female monozygotic twins among patients with BWS is dramatically increased over that of the general population, and that KCNQ1OT1 is especially vulnerable to a loss of imprinting event at a critical stage of preimplantation development.
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Se sequencing of 5,205 samples from families with ASD, accompanied by clinical information, creating a database accessible on a cloud platform and through a controlled-access internet portal that identified 18 new candidate ASD-risk genes and found that participants bearing mutations in susceptibility genes had significantly lower adaptive ability.
Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development.
The insights that the study of BWS have contributed to the understanding of the mechanisms of growth control, oncogenesis and genomic imprinting are discussed and methylation and chromatin modification may coordinate the expression of closely linked imprinted genes.
Clinical features of 78 adults with 22q11 deletion syndrome
The results have implications for clinical assessment and management, genetic counseling and research into pathophysiological mechanisms, including several of later onset in 22q11DS.