Recent Advances in Imprinting Disorders
Publikation: Bidrag til tidsskrift › Review › Forskning › fagfællebedømt
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Recent Advances in Imprinting Disorders. / Soellner, L; Begemann, M; Mackay, D J G; Grønskov, K; Tümer, Z; Maher, E R; Temple, I K; Monk, D; Riccio, A; Linglart, A; Netchine, I; Eggermann, T.
I: Clinical Genetics, Bind 91, Nr. 1, 2017, s. 3-13.Publikation: Bidrag til tidsskrift › Review › Forskning › fagfællebedømt
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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
Y1 - 2017
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
VL - 91
SP - 3
EP - 13
JO - Clinical Genetics
JF - Clinical Genetics
SN - 0009-9163
IS - 1
ER -
ID: 196766788