Recent Advances in Imprinting Disorders

TY - JOUR

T1 - Recent Advances in Imprinting Disorders

AU - Soellner, L

AU - Begemann, M

AU - Mackay, D J G

AU - Grønskov, K

AU - Tümer, Z

AU - Maher, E R

AU - Temple, I K

AU - Monk, D

AU - Riccio, A

AU - Linglart, A

AU - Netchine, I

AU - Eggermann, T

N1 - © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

PY - 2017/1/1

Y1 - 2017/1/1

N2 - Imprinting disorders (ImpDis) are a group of currently 12 congenital diseases with common underlying (epi)genetic etiologies and overlapping clinical features affecting growth, development and metabolism. In the last years it has emerged that ImpDis are characterized by the same types of mutations and epimutations, i.e. uniparental disomies, copy number variations, epimutations, and point mutations. Each ImpDis is associated with a specific imprinted locus, but the same imprinted region can be involved in different ImpDis. Additionally, even the same aberrant methylation patterns are observed in different phenotypes. As some ImpDis share clinical features, clinical diagnosis is difficult in some cases. The advances in molecular and clinical diagnosis of ImpDis help to circumvent these issues, and they are accompanied by an increasing understanding of the pathomechanism behind them. As these mechanisms have important roles for the etiology of other common conditions, the results in ImpDis research have a wider effect beyond the borders of ImpDis. For patients and their families, the growing knowledge contributes to a more directed genetic counseling of the families and personalized therapeutic approaches.

AB - Imprinting disorders (ImpDis) are a group of currently 12 congenital diseases with common underlying (epi)genetic etiologies and overlapping clinical features affecting growth, development and metabolism. In the last years it has emerged that ImpDis are characterized by the same types of mutations and epimutations, i.e. uniparental disomies, copy number variations, epimutations, and point mutations. Each ImpDis is associated with a specific imprinted locus, but the same imprinted region can be involved in different ImpDis. Additionally, even the same aberrant methylation patterns are observed in different phenotypes. As some ImpDis share clinical features, clinical diagnosis is difficult in some cases. The advances in molecular and clinical diagnosis of ImpDis help to circumvent these issues, and they are accompanied by an increasing understanding of the pathomechanism behind them. As these mechanisms have important roles for the etiology of other common conditions, the results in ImpDis research have a wider effect beyond the borders of ImpDis. For patients and their families, the growing knowledge contributes to a more directed genetic counseling of the families and personalized therapeutic approaches.

KW - DNA Copy Number Variations/genetics

KW - Epigenesis, Genetic

KW - Genetic Counseling

KW - Genetic Diseases, Inborn/diagnosis

KW - Genetic Loci/genetics

KW - Genetic Testing/methods

KW - Genomic Imprinting

KW - Humans

KW - Mutation

KW - Uniparental Disomy/genetics

U2 - 10.1111/cge.12827

DO - 10.1111/cge.12827

M3 - Review

C2 - 27363536

SN - 0009-9163

VL - 91

SP - 3

EP - 13

JO - Clinical Genetics

JF - Clinical Genetics

IS - 1

ER -