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Article

A novel PAPSS2 pathogenic variant: expanding the mutational spectrum and genotype-phenotype landscape in skeletal dysplasia.

Journal of pediatric endocrinology & metabolism : JPEM - 24 Aug 2026

Sarıkaya Özdemir Behiye, Güleray Lafcı Naz, Derinkuyu Betül Emine, Çetinkaya Semra, Şakar Merve, Keskin Melikşah, Muratoğlu Şahin Nursel, Aycan Zehra, Savaş Erdeve Şenay

Abstract excerpt

OBJECTIVES: The biosynthesis of 3'-phosphoadenosine 5'-phosphosulfate (PAPS), a universal sulfate donor, is catalyzed by two isoenzymes: PAPS synthetase 1 (PAPSS1) and PAPS synthetase 2 (PAPSS2). While PAPSS1 is ubiquitously expressed, PAPSS2 shows tissue-specific expression and plays a key role in cartilage development and adrenal steroid metabolism. PAPSS2 deficiency impairs dehydroepiandrosterone sulfation...

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Identifiers

PMID: 42227833
DOI: 10.1515/jpem-2025-0640

Genes

PAPSS2
PAPSS1

Variants

Provenance

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

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