Homozygous loss‐of‐function variants of TASP1 , a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies-Reference-Cited by-同舟云学术

Homozygous loss‐of‐function variants of TASP1 , a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies

Published:2019-07-22 Issue:11 Volume:40 Page:1985-1992
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Suleiman Jehan¹²,Riedhammer Korbinian M.³⁴⁵^ORCID,Jicinsky Timothy⁶,Mundt Melinda⁶,Werner Laurie⁶,Gusic Mirjana³⁴,Burgemeister Anna L.⁷,Alsaif Hessa S.⁸,Abdulrahim Maha⁹,Moghrabi Nabil N¹⁰,Nicolas‐Jilwan Manal¹¹,AlSayed Moeenaldeen⁹¹²,Bi Weimin¹³¹⁴,Sampath Srirangan⁶,Alkuraya Fowzan S.⁸¹²¹⁵^ORCID,El‐Hattab Ayman W.¹⁶¹⁷^ORCID

Affiliation:

1. Division of Neurology, Department of Pediatrics Tawam Hospital Al Ain United Arab Emirates

2. Department of Pediatrics, College of Medicine and Health Sciences United Arab Emirates University Al Ain United Arab Emirates

3. Institute of Human Genetics, Klinikum Rechts der Isar Technical University of Munich Munich Germany

4. Institute of Human Genetics Helmholtz Zentrum Munich Neuherberg Germany

5. Department of Nephrology, Klinikum Rechts der Isar Technical University of Munich Munich Germany

6. PreventionGenetics LLC Marshfield Wisconsin

7. Genetikum, Genetic Counseling and Diagnostics Stuttgart Germany

8. Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

9. Department of Medical Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

10. Molecular Diagnostic Laboratory, Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

11. Division of Neuroradiology, Department of Radiology King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

12. Department of Anatomy and Cell Biology College of Medicine, Alfaisal University Riyadh Saudi Arabia

13. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas

14. Baylor Genetics Houston Texas

15. Saudi Human Genome Program King Abdulaziz City for Science and Technology Riyadh Saudi Arabia

16. Department of Clinical Sciences College of Medicine, University of Sharjah Sharjah United Arab Emirates

17. Genetics Clinics KidsHeart Medical Center Abu Dhabi United Arab Emirates

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23844

Reference23 articles.

1. Chromosomal microarray in a highly consanguineous population: diagnostic yield, utility of regions of homozygosity, and novel mutations

2. Discovery of mutations for Mendelian disorders

3. Identification of novel candidate disease genes from de novo exonic copy number variants

4. Histone methylation: a dynamic mark in health, disease and inheritance

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