Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances. (Q50503694)

14 March 2018

title

Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances. (English)

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21

Reiner Siebert

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1

Susanne Bens

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author name string

Julia Kolarova

2

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Jasmin Beygo

3

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Karin Buiting

4

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Almuth Caliebe

5

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Thomas Eggermann

6

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Gabriele Gillessen-Kaesbach

7

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Dirk Prawitt

8

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Susanne Thiele-Schmitz

9

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Matthias Begemann

10

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Thorsten Enklaar

11

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Jana Gutwein

12

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Andrea Haake

13

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Ulrike Paul

14

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Julia Richter

15

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Lukas Soellner

16

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Inga Vater

17

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David Monk

18

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Bernhard Horsthemke

19

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Ole Ammerpohl

20

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publication date

20 June 2016

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published in

Epigenomics

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volume

8

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issue

6

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page(s)

801-816

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Genomic imprinting: parental influence on the genome

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Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome.

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The epigenetic imprinting defect of patients with Beckwith-Wiedemann syndrome born after assisted reproductive technology is not restricted to the 11p15 region

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Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci

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Imprinted anomalies in fetal and childhood growth disorders: the model of Russell-Silver and Beckwith-Wiedemann syndromes

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Targeted methylation testing of a patient cohort broadens the epigenetic and clinical description of imprinting disorders.

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Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations

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Simultaneous hyper- and hypomethylation at imprinted loci in a subset of patients with GNAS epimutations underlies a complex and different mechanism of multilocus methylation defect in pseudohypoparathyroidism type 1b.

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Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.

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Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57

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Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome).

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Absence of Maternal Methylation in Biparental Hydatidiform Moles from Women with NLRP7 Maternal-Effect Mutations Reveals Widespread Placenta-Specific Imprinting.

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Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment

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Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

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The origin of the RB1 imprint

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Frequency and characterization of DNA methylation defects in children born SGA.

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Directional DNA methylation changes and complex intermediate states accompany lineage specificity in the adult hematopoietic compartment

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Differential DNA methylation in purified human blood cells: implications for cell lineage and studies on disease susceptibility

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H19 lncRNA controls gene expression of the Imprinted Gene Network by recruiting MBD1.

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An atypical case of hypomethylation at multiple imprinted loci

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Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively

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Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.

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Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy

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Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes

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Complete paternal uniparental isodisomy for Chromosome 2 revealed in a parentage testing case.

21 January 2018

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A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technology.

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Non-pathological paternal isodisomy of chromosome 2 detected from a genome-wide SNP scan

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21 January 2018

Identifiers

DOI

10.2217/EPI-2016-0007

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14 March 2018

PubMed ID

27323310

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14 March 2018