ACOT1 deficiency attenuates high-fat diet-induced fat mass gain by increasing energy expenditure.

Acyl-CoA thioesterase 1 (ACOT1) catalyzes the hydrolysis of long-chain acyl-CoAs to free fatty acids and CoA and is typically upregulated in obesity. Whether targeting ACOT1 in the setting of high-fat diet-induced (HFD-induced) obesity would be metabolically beneficial is not known. Here we report that male and female ACOT1KO mice are partially protected from HFD-induced obesity, an effect associated with increased energy expenditure without alterations in physical activity or food intake.

Expanding the clinical spectrum of SOX18-related Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome.

Pathogenic variants in SOX18 are associated with hypotrichosis-lymphedema-telangiectasia-renal defects syndrome (HLTRS) and hypotrichosis-lymphedema-telangiectasia syndrome (HLTS). Eleven patients with SOX18 related HLTRS/HLTS have been previously described. Cardinal features include varying degrees of hypotrichosis, lymphedema and telangiectasias.

Ophthalmic Findings Associated with NEDD4L-related Disorder.

Pathogenic variants in the NEDD4L gene are associated with a very rare neurodevelopmental disorder characterized by periventricular nodular heterotopia, developmental delay, 2-3 toe syndactyly, and cleft palate. Ophthalmic findings associated with this disorder have not been well described in literature. We have summarized the clinical findings that have been reported in this disorder previously and highlight a novel ophthalmic finding of foveal hypoplasia in a new case of NEDD4L-related disorder.