De novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype

In this study, we present a family with four affected individuals across two generations with a deletion spanning a conserved upstream LMX1B-binding sequence. This deletion is de novo in the mother of three affected children. Furthermore, in this family, the manifestations appear limited to the nails and limbs, and therefore may reflect an attenuated phenotype of the classic Nail-Patella phenotype that includes ophthalmological and renal manifestations.PMID:37899549 | DOI:10.1111/cge.14447

Source: Clinical Genetics - October 30, 2023 Category: Genetics & Stem Cells Authors: David Francis Paula Lall Samantha Ayres Nicole J Van Bergen John Christodoulou Natasha J Brown Paul Kalitsis Source Type: research