Publications by authors named "F Cartault"
Article Synopsis
- A recent study focuses on patients with a microduplication in the 19p13.3 region, linked to issues like growth delays, small head size, and developmental delays.
- The research analyzes a large cohort of 24 patients using advanced genomic techniques to better understand the genetic basis of this syndrome.
- The study identifies a new critical region (CR 1) associated with the duplication, which affects gene interactions critical for normal developmental processes, particularly related to head size.
Xeroderma pigmentosum (XP) is a rare, genetic, autosomal nucleotide excision repair-deficient disease characterized by sun-sensitivity and early appearance of skin and ocular tumors. Thirty-two black-skinned XP from Comoros, located in the Indian Ocean, were counted, rendering this area the highest world prevalence of XP. These patients exhibited a new homozygous XPC mutation at the 3'-end of the intron12 (IVS 12-1G>C) leading to the absence of XPC protein.
View Article and Find Full Text PDFBackground: Xeroderma pigmentosum (XP) is a rare genetic disease comprising 7 subgroups, A to G, all of which are associated with early onset of several forms of skin cancer. Our main objective was to determine the prevalence of skin cancers in a cohort of dark-skinned XP-C patients in Mayotte.
Patients And Methods: A single-centre cohort consisting of all XP patients was followed in the island of Mayotte from December 2015 to May 2017 by dermatologists from the University Hospital of Saint-Denis (Reunion) during the course of dermatological missions.
Article 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.