A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype-Reference-Cited by-同舟云学术

A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41‐q42 deletion phenotype

Published:2018-07 Issue:7 Volume:176 Page:1549-1558
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Balak Chris¹^ORCID,Belnap Newell¹,Ramsey Keri¹,Joss Shelagh²,Devriendt Koen³,Naymik Marcus¹,Jepsen Wayne¹,Siniard Ashley L.¹,Szelinger Szabolcs¹⁴,Parker Mary E.⁵⁶,Richholt Ryan¹,Izatt Tyler¹,LaFleur Madison¹,Terraf Panieh¹,Llaci Lorida¹,De Both Matt¹,Piras Ignazio S.¹,Rangasamy Sampathkumar¹,Schrauwen Isabelle¹⁷^ORCID,Craig David W.¹⁸,Huentelman Matt¹,Narayanan Vinodh¹

Affiliation:

1. Neurogenomics Division, Center for Rare Childhood Disorders (C4RCD)Translational Genomics Research InstitutePhoenix Arizona

2. West of Scotland Genetics ServiceQueen Elizabeth University HospitalGlasgow United Kingdom

3. Center for Human Genetics (Centrum Menselijke Erfelijkheid)University of LeuvenLeuven Belgium

4. UCLA Pathology & Laboratory MedicineUCLA Center for the Health SciencesLos Angeles California

5. Department of Physical TherapyTexas State UniversitySan Marcos Texas

6. U.R. Our Hope, Undiagnosed and Rare Disorder OrganizationAustin Texas

7. Department of Molecular and Human Genetics, Center for Statistical GeneticsBaylor College of MedicineHouston Texas

8. Department of Translational GenomicsKeck School of Medicine of USCLos Angeles California

Funder

Wellcome Trust

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38712

Reference51 articles.

1. A method and server for predicting damaging missense mutations

2. Refinement of the critical region of 1q41q42 microdeletion syndrome identifiesFBXO28as a candidate causative gene for intellectual disability and seizures

3. Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum

4. Hajdu-Cheney syndrome: a review

5. FBXO28is a critical gene of the 1q41q42 microdeletion syndrome

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