4.1 Article

Traboulsi syndrome caused by mutations in ASPH: An autosomal recessive disorder with overlapping features of Marfan syndrome

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Summary: A novel homozygous variant in exon 21 of the ASPH gene was identified in two of the three Traboulsi syndrome patients, while a known pathogenic variant in exon 25 was found in the third proband. In silico analysis predicted that the mutation affects the calcium-binding activity of the gene, which may explain the cardiac dysfunction in these two patients. This study demonstrated a perfect genotype-phenotype correlation in Traboulsi syndrome patients with cardiac dysfunction.

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