Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype-Reference-Cited by-同舟云学术

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype

Published:2019-03-18 Issue:4 Volume:95 Page:496-506
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Radley Jessica A.¹^ORCID,O'Sullivan Rory B.G.²,Turton Sarah E.³,Cox Helen¹,Vogt Julie¹,Morton Jenny¹,Jones Elizabeth⁴⁵,Smithson Sarah⁶,Lachlan Katherine⁷,Rankin Julia⁸,Clayton-Smith Jill⁴⁵,Willoughby Josh⁹,Elmslie Frances F.¹⁰,Sansbury Francis H.⁶¹¹,Cooper Nicola¹,Balasubramanian Meena¹²¹³^ORCID,

Affiliation:

1. West Midlands Regional Clinical Genetics Service and Birmingham Health Partners; Birmingham Women's and Children's Hospitals NHS Foundation Trust; Birmingham UK

2. Medical School; University of Sheffield; Sheffield UK

3. West Midlands Regional Genetics Laboratory Birmingham Women's and Children's Hospitals NHS Foundation Trust; Birmingham UK

4. Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust; Manchester UK

5. Division of Evolution and Genomic Sciences, School of Biological Sciences; University of Manchester; Manchester UK

6. University Hospitals Bristol NHS Foundation Trust; Clinical Genetics, St. Michael's Hospital; Bristol UK

7. Wessex Clinical Genetics Service; University Hospitals of Southampton NHS Trust; Southampton UK

8. Peninsula Clinical Genetics; Royal Devon and Exeter NHS Trust; Exeter UK

9. Sheffield Diagnostic Genetics Service; Sheffield Children's NHS Foundation Trust; Sheffield UK

10. South West Thames Regional Genetics Service; St George's University Hospitals NHS Foundation Trust; London UK

11. All Wales Medical Genetics Service, Cardiff and Vale University Health Board, Institute of Medical Genetics; University Hospital of Wales; Cardiff UK

12. Sheffield Clinical Genetics Service; Sheffield Children's NHS Foundation Trust; Sheffield UK

13. Academic Unit of Child Health, Department of Oncology and Metabolism; University of Sheffield; Sheffield UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13507/fullpdf

Reference32 articles.

1. Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome;Morleo;Mol Med Rep,2008

2. Bidirectional regulation of synaptic transmission by BRAG1/IQSEC2 and its requirement in long-term depression;Brown;Nat Commun,2016

3. IQSEC2 and X-linked syndromal intellectual disability;Alexander-Bloch;Psychiatr Genet.,2016

4. The molecular and phenotypic spectrum of IQSEC2-related epilepsy;Zerem;Epilepsia.,2016

5. Deciphering Developmental Disorders (DDD) Project-Home page [Internet] 2018

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