A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome

Hugo H. Abarca Barriga, Nathaly Caballero, Milana Trubnykova, María del Carmen Castro-Mujica, Jorge E. La Serna-Infantes, Flor Vásquez, Raoul C. Hennekam

Resultado de la investigación: Contribución a una revistaArtículorevisión exhaustiva

15 Citas (Scopus)

Resumen

Shawaf-Traboulsi syndrome (or Traboulsi syndrome; MIM 601552) is an infrequently reported entity characterized by a typical face (long face, large nose, convex nasal ridge, underdeveloped malae, crowded teeth, retrognathia), skeletal signs (long and slender fingers, sometimes pectus deformation and hypermobile joints), and ectopia lentis with conjunctival blebs, shallow anterior chamber and iridocorneal adhesions. The entity is caused by homozygous variants in ASPH. Here, we report on a boy with the clinical diagnosis of Shawaf-Traboulsi syndrome, in whom exome sequencing allowed identification of a novel variant in ASPH. We compare the findings in the present patient to those of earlier reported patients; furthermore add new signs for this entity.

Idioma originalInglés
Páginas (desde-hasta)2494-2500
Número de páginas7
PublicaciónAmerican Journal of Medical Genetics, Part A
Volumen176
N.º11
DOI
EstadoPublicada - nov. 2018

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