ANGELINI, Chloe; GOIZET, Cyril; AIT SAID, Samia; CAMU, William; DEPIENNE, Christel; HERON, Benedicte; KOL, Bophara; GUILLAUD-BATAILLE, Marine; PENNAMEN, Perrine; ROORYCK-THAMBO, Caroline; SCHERER-GAGOU, Clarisse; TISSIER, Laurene; STEVANIN, Giovanni; LEGUERN, Eric; BANNEAU, Guillaume

doi:10.1038/s41431-021-00847-4

Metadatos

Mostrar el registro completo del ítem

Licencia de uso del documento

ANGELINI, Chloe

GOIZET, Cyril

Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]

AIT SAID, Samia

Idioma

Article de revue

Este ítem está publicado en

European Journal of Human Genetics. 2021-05-06, vol. 29, n° 7, p. 1158-1163

Resumen en inglés

Hereditary spastic paraplegias (HSP) are heterogeneous disorders, with more than 70 causative genes. Variants in SPAST are the most frequent genetic etiology and are responsible for spastic paraplegia type 4 (SPG4). Age at onset can vary, even between patients from the same family, and incomplete penetrance is described. Somatic mosaicism is extremely rare with only three patients reported in the literature. We report here SPAST mosaic variants in four unrelated patients. We confirm that mosaicism in SPAST is a very rare event with only four identified cases on more than 300 patients with a SPAST variant previously described by our clinical diagnostic laboratory.< Leer menos

Metadatos

Compartir este ítem

Licencia de uso del documento

Evidence of mosaicism in SPAST variant carriers in four French families

Idioma

Este ítem está publicado en

Resumen en inglés

URI

DOI

Centros de investigación