Novel missense mutations of the FLG gene identified in two Chinese families affected with ichthyosis vulgaris / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify potential mutations of the FLG gene in two Chinese families affected with ichthyosis vulgaris.</p><p><b>METHODS</b>All coding exons and exon-intron boundary of the FLG gene were amplified by polymerase chain reaction (PCR) and analyzed by direct sequencing. The results were compared with those of 100 unrelated healthy controls.</p><p><b>RESULTS</b>Two novel missense mutations, c.1360A>G (p.T454A) and c.10363G>T (p.D3455Y), were detected in all affected individuals from family 1 and family 2 respectively but none of the controls.</p><p><b>CONCLUSION</b>The c.1360A>G (p.T454A) and c.10363G>T (p.D3455Y) of the FLG gene may lead to alteration of the structure and function of the FLG protein and cause ichthyosis vulgaris in the two families.</p>