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Clin Dysmorphol
; 28(4): 184-189, 2019 Oct.
Artículo
en Inglés
| MEDLINE
| ID: mdl-31274573
RESUMEN
Traboulsi syndrome is an extremely rare ophthalmological disorder characterised by facial dysmorphism, lens dislocation, anterior segment abnormalities and spontaneous filtering blebs. It is caused by pathogenic variants in the ASPH gene. To date, only 13 individuals with Traboulsi syndrome from three families have been reported in the literature. We report the first UK family with Traboulsi syndrome associated with two novel ASPH variants. This condition, which has some phenotypic overlap with both Marfan syndrome and homocystinuria, is most likely under ascertained, and we further delineate the clinical features to aid its recognition.
Asunto(s)
Proteínas de Unión al Calcio/genética , Desplazamiento del Cristalino/diagnóstico , Desplazamiento del Cristalino/genética , Proteínas de la Membrana/genética , Oxigenasas de Función Mixta/genética , Proteínas Musculares/genética , Alelos , Preescolar , Análisis Mutacional de ADN , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Mutación , Fenotipo
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