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First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
BackgroundImprinting disorders, which affect growth, development, metabolism and neoplasia risk, are caused by genetic or epigenetic changes to genes...
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Promising therapeutic aspects in human genetic imprinting disorders
Genomic imprinting is an epigenetic phenomenon of monoallelic gene expression pattern depending on parental origin. In humans, congenital imprinting...
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Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences
BackgroundImprinting disorders are a group of congenital diseases which are characterized by molecular alterations affecting differentially...
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Genomic Imprinting and Brain Function
In a small subset of mammalian genes, one of the two inherited copies (alleles) is switched off. Which allele is subject to “genomic imprinting” is...
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Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
BackgroundBeckwith–Wiedemann syndrome (BWS) and Pseudohypoparathyroidism type 1B (PHP1B) are imprinting disorders (ID) caused by deregulation of the...
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Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny
Beckwith–Wiedemann syndrome (BWS, OMIM # 130650) is an imprinting disorder, associated with overgrowth and increased risk of embryonal tumors....
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Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery
Epigenetics, one mechanism by which gene expression can change without any changes to the DNA sequence, was described nearly a century ago. However,...
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Biallelic PADI6 variants cause multilocus imprinting disturbances and miscarriages in the same family
The term multilocus imprinting disturbance (MLID) describes the aberrant methylation of multiple imprinted loci in the genome, and MLID occurs in...
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DNA Methylation
In this chapter, the best-understood epigenetic mark, cytosine methylation of genomic DNA, will be introduced. DNA methylation is performed by DNA...
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CNVs in Patients with Neurodevelopmental Disorders: Meta-Analysis
AbstractThis review is devoted to a comprehensive analysis of DNA copy number variations (CNVs) identified in patients with neurodevelopmental...
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Genome-Wide Association Study: Analysis of Association of Polymorphic Loci in 4p15.2 and 20q13.31 Regions with Paranoid Schizophrenia
AbstractOver fifteen years, genome-wide association studies (GWAS) have identified several million polymorphic risk markers for schizophrenia,...
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Epigenetic Mosaicism in Genomic Imprinting Disorders
AbstractDifferential gene expression during development is maintained by complex regulatory epigenetic mechanisms that provide the formation of...
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Epigenetic Control and Cerebellar Neurodevelopmental Disorders
Epigenetic mechanisms regulate cellular identity and organ morphology via instructing the gene expression program of specific cell types. Such...
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ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance
BackgroundZNF445 , as well as ZFP57 , is involved in the postfertilization methylation maintenance of multiple imprinting-associated differentially...
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Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance
BackgroundPADI6 is a component of the subcortical maternal complex, a group of proteins that is abundantly expressed in the oocyte cytoplasm, but is...
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The genomic landscape of rare disorders in the Middle East
BackgroundRare diseases collectively impose a significant burden on healthcare systems, especially in underserved regions, like the Middle East,...
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Identification of differentially methylated regions in rare diseases from a single-patient perspective
BackgroundDNA methylation (5-mC) is being widely recognized as an alternative in the detection of sequence variants in the diagnosis of some rare...
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Long-range phasing of dynamic, tissue-specific and allele-specific regulatory elements
Epigenomic maps identify gene regulatory elements by their chromatin state. However, prevailing short-read sequencing methods cannot effectively...
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A family-based study of genetic and epigenetic effects across multiple neurocognitive, motor, social-cognitive and social-behavioral functions
Many psychiatric and neurodevelopmental disorders are known to be heritable, but studies trying to elucidate the genetic architecture of such traits...
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Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
The multidisciplinary Epigenetics and Chromatin Clinic at Johns Hopkins provides comprehensive medical care for individuals with rare disorders that...
