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2 result(s) for "Le Fleur, Laura"
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Donor-Derived West Nile Virus Infection in Kidney Transplant Recipients, France, 2025
We report 2 cases of donor-derived West Nile virus infection in kidney transplant recipients in France. Both recipients had mild disease develop and recovered without sequelae. A more proactive screening strategy in France, particularly during periods of highest risk for West Nile virus circulation, would help reduce risk for donor-derived infections.
Expansions de répétitions introniques ATTTC dans STARD7 dans l'épilepsie myoclonique familiale adulte liée au chromosome 2
Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical myoclonic tremor usually from the second decade of life and overt myoclonic or generalised tonic-clonic seizures. Four independent loci have been implicated in FAME on chromosomes (chr) 2, 3, 5 and 8. Using whole genome sequencing and repeat primed PCR, we provide evidence that chr2-linked FAME (FAME2) is caused by an expansion of an ATTTC pentamer within the first intron of STARD7. The ATTTC expansions segregate in 158/158 individuals typically affected by FAME from 22 pedigrees including 16 previously reported families recruited worldwide. RNA sequencing from patient derived fibroblasts shows no accumulation of the AUUUU or AUUUC repeat sequences and STARD7 gene expression is not affected. These data, in combination with other genes bearing similar mutations that have been implicated in FAME, suggest ATTTC expansions may cause this disorder, irrespective of the genomic locus involved. L'épilepsie myoclonique familiale de l'adulte (FAME) se caractérise par un tremblement myoclonique cortical, généralement observé dès la deuxième décennie de vie, et par des crises myocloniques manifestes ou tonico-cloniques généralisées. Quatre loci indépendants ont été impliqués dans la FAME sur les chromosomes (chr) 2, 3, 5 et 8. Grâce au séquençage du génome entier et à la PCR avec amorce répétée, nous démontrons que la FAME liée à chr2 (FAME2) est causée par une expansion d'un pentamère ATTTC dans le premier intron de STARD7 . Les expansions ATTTC se ségréguent chez 158/158 individus typiquement atteints de FAME, issus de 22 généalogies, dont 16 familles précédemment identifiées et recrutées dans le monde entier. Le séquençage de l'ARN des fibroblastes dérivés des patients ne montre aucune accumulation des séquences répétées AUUUU ou AUUUC, et l'expression du gène STARD7 n'est pas affectée. Ces données, combinées à d’autres gènes portant des mutations similaires qui ont été impliquées dans FAME, suggèrent que les expansions ATTTC peuvent être à l’origine de ce trouble, quel que soit le locus génomique impliqué.