Expanding the clinical phenotype and variant spectrum associated with RFX7.
RFX7
microcephaly
neurodevelopmental delay
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
15 Jul 2024
15 Jul 2024
Historique:
revised:
26
06
2024
received:
19
04
2024
accepted:
04
07
2024
medline:
15
7
2024
pubmed:
15
7
2024
entrez:
15
7
2024
Statut:
aheadofprint
Résumé
RFX7 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.
Identifiants
pubmed: 39007708
doi: 10.1002/ajmg.a.63816
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e63816Informations de copyright
© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
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