Sandrine Marlin

Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function

The paper reports seven individuals with PLCG1 variants causing hearing, vision, cardiac, and immune issues, and shows these variants have gain-of-function effects in Drosophila models.

Title: The RNA-binding protein TRIM71 is essential for hearing in humans and mice and regulates the timing of auditory sensory organ development

This study identifies TRIM71 as essential for hearing in humans and mice, showing it regulates the timing of auditory sensory organ development and prevents premature hair cell differentiation.

Dopachrome tautomerase variants in patients with oculocutaneous albinism.

The paper identifies DCT gene variants in two patients with oculocutaneous albinism, demonstrating their association with hypopigmentation and proposing a new subtype, OCA8.