Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis?-Reference-Cited by-同舟云学术

Are all Xq26.2 duplications overlapping GPC3 on array-CGH a cause of Simpson-Golabi-Behmel syndrome? When do we need transcript analysis?

Published:2018-01-25 Issue:5 Volume:93 Page:1111-1113
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Vuillaume M.-L.¹²^ORCID,Moizard M.-P.¹²,Hammouche E.¹,Delrue M.-A.³,Perrin L.⁴,Maftei C.³⁵,Dupont C.⁶,Drunat S.⁷,Cottereau E.¹,Baumann C.⁴,Toutain A.¹²

Affiliation:

1. Service de Génétique, CHU Bretonneau; Tours France

2. Unité INSERM U930, Université François Rabelais; Tours France

3. Medical Genetics Division, CHU Sainte-Justine; Montreal Canada

4. Unité de Génétique Clinique, Département de Génétique; CHU Robert Debré; Paris France

5. Cytogenetic Laboratory, CHU Sainte-Justine; Montreal Canada

6. Unité Fonctionnelle de Cytogénétique, Département de Génétique; CHU Robert Debré; Paris France

7. UF de Génétique Moléculaire, Département de Génétique; CHU Robert Debré; Paris France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13151/fullpdf

Reference5 articles.

1. Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome;Shimojima;Hum Genome Var,2016

2. Simpson-Golabi-Behmel syndrome: a prenatal diagnosis in a foetus with GPC3 and GPC4 gene microduplications;Mujezinović;Clin Genet,2016

3. Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene;Mateos;Am J Med Genet A,2013

4. Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome;Cottereau;Am J Med Genet A,2014

5. Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints;Newman;Am J Hum Genet,2015

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1. Prenatal case of Simpson–Golabi–Behmel syndrome with a de novo 370Kb‐sized microdeletion of Xq26.2 compassing partial GPC3 gene and review;Molecular Genetics & Genomic Medicine;2021-07-22

2. Xq26 duplications lead to undergrowth or overgrowth via competing pathways including GPC3/GPC4;Annals of Human Genetics;2019-10-03

3. Mutation update for the GPC3 gene involved in Simpson-Golabi-Behmel syndrome and review of the literature;Human Mutation;2018-04-24