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A complex multisystem disorder including hypopituitarism and hypoparathyroidism, associated with mutation in the gene encoding fatty acid synthase (FASN).

Metabolism: clinical and experimental - 1 Jul 2025

Gregory L C, Krywawych S, Rahman S, Lagos Carlos F, Eaton S, Dattani M T

Abstract excerpt

Whole exome sequencing performed on a male patient with a complex phenotype including short stature associated with hypopituitarism, sensorineural deafness, hypoparathyroidism, retinal dystrophy, and developmental delay revealed a novel de novo variant in FASN (p.Ala2132Val), encoding fatty acid synthase. The patient failed to respond to growth-promoting treatment, only reaching a height of 128.3 cm (-6.98 SDS)...

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Identifiers

PMID: 40185395
DOI: 10.1016/j.metabol.2025.156256

Genes

FASN

Variants

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