A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome.
Am J Med Genet A
; 176(11): 2494-2500, 2018 11.
Article
em En
| MEDLINE
| ID: mdl-30194805
ABSTRACT
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.
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Base de dados:
MEDLINE
Assunto principal:
Variação Genética
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Anormalidades Múltiplas
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Proteínas de Ligação ao Cálcio
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Oxigenases de Função Mista
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Proteínas de Membrana
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Proteínas Musculares
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article