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Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
MICHAUD, Vincent
Université de Bordeaux [UB]
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
CHU de Bordeaux Pellegrin [Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
Université de Bordeaux [UB]
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
CHU de Bordeaux Pellegrin [Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
ARVEILER, Benoit
Service de génétique médicale
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
Service de génétique médicale
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
TRIMOUILLE, Aurelien
Hôpital Pellegrin
Service de génétique médicale
Biothérapies des maladies génétiques et cancers
Université de Bordeaux [UB]
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
CHU de Bordeaux Pellegrin [Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
< Leer menos
Hôpital Pellegrin
Service de génétique médicale
Biothérapies des maladies génétiques et cancers
Université de Bordeaux [UB]
Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux]
CHU de Bordeaux Pellegrin [Bordeaux]
Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
Idioma
EN
Article de revue
Este ítem está publicado en
Journal of Medical Genetics. 2024-06-07p. 109854
Resumen en inglés
Tonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple congenital anomaly disorder caused by variations. Of the 41 patients reported, only 7 antenatal cases were described. After the antenatal diagnosis of ...Leer más >
Tonne-Kalscheuer syndrome (TOKAS) is a recessive X-linked multiple congenital anomaly disorder caused by variations. Of the 41 patients reported, only 7 antenatal cases were described. After the antenatal diagnosis of TOKAS by exome analysis in a family followed for over 35 years because of multiple congenital anomalies in five male fetuses, a call for collaboration was made, resulting in a cohort of 11 previously unpublished cases. We present a TOKAS antenatal cohort, describing 11 new cases in 6 French families. We report a high frequency of diaphragmatic hernia (9 of 11), differences in sex development (10 of 11) and various visceral malformations. We report some recurrent dysmorphic features, but also pontocerebellar hypoplasia, pre-auricular skin tags and olfactory bulb abnormalities previously unreported in the literature. Although no clear genotype-phenotype correlation has yet emerged, we show that a recurrent p.(Arg611Cys) variant accounts for 66% of fetal TOKAS cases. We also report two new likely pathogenic variants in , outside of the two previously known mutational hotspots. Overall, we present the first fetal cohort of TOKAS, describe the clinical features that made it a recognisable syndrome at fetopathological examination, and extend the phenotypical spectrum and the known genotype of this rare disorder.< Leer menos
Palabras clave en inglés
Exome sequencing
Genetic diseases
Inborn
Genetic diseases
X-Linked
Genetics
Genomics
Centros de investigación
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