Expanding the clinical phenotype and variant spectrum associated with RFX7.
Am J Med Genet A
; : e63816, 2024 Jul 15.
Article
em En
| MEDLINE
| ID: mdl-39007708
ABSTRACT
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.
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MEDLINE
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En
Ano de publicação:
2024
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Article