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Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database

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Tümer, Zeynep ; López-Hernández, Julia Angélica ; Netchine, Irène ; Elbracht, Miriam ; Grønskov, Karen ; Gede, Lene Bjerring ; Sachwitz, Jana ; den Dunen, Johan T ; Eggermann, Thomas. / Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database. In: Human Mutation. 2018 ; Vol. 39, No. 3. pp. 345-364.

Bibtex

@article{2ec2ddd14c394e6f9cf5692cedfd487a,
title = "Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database",
abstract = "Silver-Russell syndrome (SRS) is a clinically and molecularly heterogeneous disorder involving prenatal and postnatal growth retardation, and the term SRS-like is broadly used to describe individuals with clinical features resembling SRS. The main molecular subgroups are loss of methylation of the distal imprinting control region (H19/IGF2:IG-DMR) on 11p15.5 (50{\%}) and maternal uniparental disomy of chromosome 7 (5{\%}-10{\%}). Through a comprehensive literature search, we identified 91 patients/families with various structural and small sequence variants, which were suggested as additional molecular defects leading to SRS/SRS-like phenotypes. However, the molecular and phenotypic data of these patients were not standardized and therefore not comparable, rendering difficulties in phenotype-genotype comparisons. To overcome this challenge, we curated a disease database including (epi)genetic phenotypic data of these patients. The clinical features are scored according to the Netchine-Harbison clinical scoring system (NH-CSS), which has recently been accepted as standard by consensus. The structural and sequence variations are reviewed and where necessary redescribed according to recent recommendations. Our study provides a framework for both research and diagnostic purposes through facilitating a standardized comparison of (epi)genotypes with phenotypes of patients with structural/sequence variants.",
keywords = "Journal Article",
author = "Zeynep T{\"u}mer and L{\'o}pez-Hern{\'a}ndez, {Julia Ang{\'e}lica} and Ir{\`e}ne Netchine and Miriam Elbracht and Karen Gr{\o}nskov and Gede, {Lene Bjerring} and Jana Sachwitz and {den Dunen}, {Johan T} and Thomas Eggermann",
note = "{\circledC} 2017 Wiley Periodicals, Inc.",
year = "2018",
month = "3",
doi = "10.1002/humu.23382",
language = "English",
volume = "39",
pages = "345--364",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "John/Wiley & Sons, Inc. John/Wiley & Sons Ltd",
number = "3",

}

RIS

TY - JOUR

T1 - Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database

AU - Tümer, Zeynep

AU - López-Hernández, Julia Angélica

AU - Netchine, Irène

AU - Elbracht, Miriam

AU - Grønskov, Karen

AU - Gede, Lene Bjerring

AU - Sachwitz, Jana

AU - den Dunen, Johan T

AU - Eggermann, Thomas

N1 - © 2017 Wiley Periodicals, Inc.

PY - 2018/3

Y1 - 2018/3

N2 - Silver-Russell syndrome (SRS) is a clinically and molecularly heterogeneous disorder involving prenatal and postnatal growth retardation, and the term SRS-like is broadly used to describe individuals with clinical features resembling SRS. The main molecular subgroups are loss of methylation of the distal imprinting control region (H19/IGF2:IG-DMR) on 11p15.5 (50%) and maternal uniparental disomy of chromosome 7 (5%-10%). Through a comprehensive literature search, we identified 91 patients/families with various structural and small sequence variants, which were suggested as additional molecular defects leading to SRS/SRS-like phenotypes. However, the molecular and phenotypic data of these patients were not standardized and therefore not comparable, rendering difficulties in phenotype-genotype comparisons. To overcome this challenge, we curated a disease database including (epi)genetic phenotypic data of these patients. The clinical features are scored according to the Netchine-Harbison clinical scoring system (NH-CSS), which has recently been accepted as standard by consensus. The structural and sequence variations are reviewed and where necessary redescribed according to recent recommendations. Our study provides a framework for both research and diagnostic purposes through facilitating a standardized comparison of (epi)genotypes with phenotypes of patients with structural/sequence variants.

AB - Silver-Russell syndrome (SRS) is a clinically and molecularly heterogeneous disorder involving prenatal and postnatal growth retardation, and the term SRS-like is broadly used to describe individuals with clinical features resembling SRS. The main molecular subgroups are loss of methylation of the distal imprinting control region (H19/IGF2:IG-DMR) on 11p15.5 (50%) and maternal uniparental disomy of chromosome 7 (5%-10%). Through a comprehensive literature search, we identified 91 patients/families with various structural and small sequence variants, which were suggested as additional molecular defects leading to SRS/SRS-like phenotypes. However, the molecular and phenotypic data of these patients were not standardized and therefore not comparable, rendering difficulties in phenotype-genotype comparisons. To overcome this challenge, we curated a disease database including (epi)genetic phenotypic data of these patients. The clinical features are scored according to the Netchine-Harbison clinical scoring system (NH-CSS), which has recently been accepted as standard by consensus. The structural and sequence variations are reviewed and where necessary redescribed according to recent recommendations. Our study provides a framework for both research and diagnostic purposes through facilitating a standardized comparison of (epi)genotypes with phenotypes of patients with structural/sequence variants.

KW - Journal Article

U2 - 10.1002/humu.23382

DO - 10.1002/humu.23382

M3 - Journal article

VL - 39

SP - 345

EP - 364

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 3

ER -

ID: 52408186