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Case Reports
. 2024 Dec;194(12):e63816.
doi: 10.1002/ajmg.a.63816. Epub 2024 Jul 15.

Expanding the clinical phenotype and variant spectrum associated with RFX7

Talia Sisroe  1 , Attila Dos Santos  1 , Alyssa L Rippert  2 , Christopher Gray  2 , Cara M Skraban  2   3 , Beverly Nelson  4 , Sarah Tefft  5   6 , Ingo Helbig  3   5   6 , Dong Li  2   3   7 , Elizabeth J Bhoj  2   3   7 , Andrew K Sobering  1   8   9
Affiliations
Case Reports

Expanding the clinical phenotype and variant spectrum associated with RFX7

Talia Sisroe et al. Am J Med Genet A. 2024 Dec.

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.

Keywords: RFX7; microcephaly; neurodevelopmental delay.

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References

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