Publications by authors named "F Darcel"
Purpose: Biallelic loss-of-function variants in ST3GAL5 cause GM3 synthase deficiency (GM3SD) responsible for Amish infantile epilepsy syndrome. All Amish patients carry the homozygous p.(Arg288Ter) variant arising from a founder effect.
View Article and Find Full Text PDFA recurrent familial partial lipodystrophy due to a monoallelic or biallelic LMNA founder variant highlights the multifaceted cardiac manifestations of metabolic laminopathies.
Eur J Endocrinol
August 2021
Aims: LMNA-linked familial partial lipodystrophy type 2 (FPLD2) leads to insulin resistance-associated metabolic complications and cardiovascular diseases. We aimed to characterise the disease phenotype in a cohort of patients carrying an LMNA founder variant.
Methods: We collected clinical and biological data from patients carrying the monoallelic or biallelic LMNA p.
Bardet-Biedl syndrome (BBS) is a rare ciliopathy with variable retinal dystrophy, polydactyly, renal abnormalities, obesity, cognitive impairment, and hypogonadism. Biallelic pathogenic variants have been identified in 24 genes, leading to BBS in an autosomal recessive inheritance pattern. In this study, we investigated a cohort of 16 families (20 individuals) presenting with typical BBS originating from La Réunion Island using sequencing (Sanger and high-throughput methods) and SNP array.
View Article and Find Full Text PDFArticle Synopsis
- Reunion Island has a higher prevalence of deafness (1.6/1000) compared to mainland France, with a study involving twelve children who have isolated bilateral prelingual profound deafness and vestibular issues.
- These children had normal results in electroretinography and temporal bone CT scans, and a novel genetic mutation (LHFPL5) was identified through whole-exome sequencing in several families.
- The presence of the same genetic variant in multiple families is linked to a common ancestor from 1693, and the patients' condition resembles a known murine model of hearing loss.