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Compound Heterozygous Variants in the Phospholipase Gene PNPLA6 Cause Hypopituitarism and Vision Loss.

Human mutation - 1 Jan 2026

Vishnopolska Sebastian, Liu James, Camilletti Maria Andrea, Mayer Julian Martinez, Garcia Lucia Iglesias, Brinkmeier Michelle, Vaiani Elisa, Vidal Sofia Hebe, Ciaccio Marta, Di Palma María Isabel, Belgorosky Alicia, Marti Marcelo, Hufnagel Robert B, Camper Sally A, Perez-Millan Maria Ines

Abstract excerpt

PNPLA6 is a conserved lysophospholipase essential for maintaining nervous system integrity. Biallelic mutations in PNPLA6 have been identified in individuals with a broad spectrum of disorders that can include ataxia, vision loss, and pituitary hormone deficiency. Here, we report the identification of novel compound heterozygous variants in PNPLA6 (p.T1115P and p.Pro1142_Ala1143ins14) in a 10-year-old girl with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42327344
DOI: 10.1155/humu/4515038
PMCID: PMC13282554

Genes

PNPLA6
SOX2

Variants

Provenance

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

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