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Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology.

Clinical genetics - 1 Sept 2024

Aagaard Nolting Line, Holling Tess, Nishimura Gen, Ek Jakob, Bak Mads, Ljungberg Merete, Kutsche Kerstin, Hove Hanne

Abstract excerpt

Biallelic variants in PISD cause a phenotypic spectrum ranging from short stature with spondyloepimetaphyseal dysplasia (SEMD) to a multisystem disorder affecting eyes, ears, bones, and brain. PISD encodes the mitochondrial-localized enzyme phosphatidylserine decarboxylase. The PISD precursor is self-cleaved to generate a heteromeric mature enzyme that converts phosphatidylserine to the phospholipid...

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Identifiers

PMID: 38801004
DOI: 10.1111/cge.14549

Genes

PISD

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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