Expanding the clinical phenotype and variant spectrum associated with <scp><i>RFX7</i></scp>-Reference-Cited by-同舟云学术

Expanding the clinical phenotype and variant spectrum associated with RFX7

Published:2024-07-15 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Sisroe Talia¹,Santos Attila Dos¹,Rippert Alyssa L.²,Gray Christopher²,Skraban Cara M.²³,Nelson Beverly⁴,Tefft Sarah⁵⁶,Helbig Ingo³⁵⁶,Li Dong²³⁷,Bhoj Elizabeth J.²³⁷,Sobering Andrew K.¹⁸⁹^ORCID

Affiliation:

1. AU/UGA Medical Partnership of the Medical College of Georgia University of Georgia Health Sciences Campus Athens Georgia USA

2. Division of Human Genetics, Department of Pediatrics The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

3. Department of Pediatrics University of Pennsylvania Perelman School of Medicine Philadelphia Pennsylvania USA

4. Clinical Teaching Unit St. George's University School of Medicine St. George's Grenada

5. Division of Neurology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

6. The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

7. Center for Applied Genomics, The Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

8. Department of Biochemistry St. George's University School of Medicine St. George's Grenada

9. Windward Islands Research and Education Foundation, True Blue St. George's Grenada

Abstract

AbstractRFX7 encodes a transcription factor that is ubiquitously expressed and important for neural development. Haploinsufficiency of RFX7 is associated with intellectual disability, developmental delay, and diverse malformations of brain structures. Currently, there are only 16 clinically described individuals who have variants in RFX7. A recognizable pattern of malformation associated with mutation in RFX7 has not yet been uncovered. Here we describe the phenotypic presentation of two additional individuals who have novel de novo variants in RFX7. One of the individuals we describe is from an under‐represented Afro‐Caribbean population.

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63816

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