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Article

Broadening the phenotypic and molecular spectrum of PRS deficiency in females.

HGG advances - 9 Jul 2026

Braid Tamara, Scholten Sydney, Yoganathan Sangeetha, Alsalamah Abrar K, Deschênes Daniel, Deslongchamps Ghislain, Goobie Sharan, Heon Elise, Tein Ingrid, Deshwar Ashish R

Abstract excerpt

Phosphoribosylpyrophosphate synthetase (PRS) deficiency is a rare X-linked disorder caused by variants in the PRPS1 gene. While males typically exhibit severe phenotypes, heterozygous females may or may not be affected, most likely explained by skewed X chromosome inactivation and its impact on enzyme activity. In this study, we describe and study both unique and previously described variants in PRPS1 in female...

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Identifiers

PMID: 41928471
DOI: 10.1016/j.xhgg.2026.100601
PMCID: PMC13133926

Genes

PRPS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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