| Purpose: To identify mutations in fibrillin-1 gene (FBN1) and provide further information about genetype-phenotype correlations in Chinese patients with predominant ectopia lentis (EL) and marfanoid habitus.
Methods: Patients from seven Chinese families underwent complete physical, ophthalmic and cardiovascular examination. Genomic DNA was extracted from leukocytes of peripheral blood from the patients. The 65 exons and flanking intronic sequences of FBN1 were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing.
Results: Three novel mutations, including c.203G>T in exon 2, c.502T>C in exon 5 and c.2096G>C in exon 16 and four known mutations, including c.364C>T in exon 4, c.1633C>T in exon 13, c.1879C>T in exon 15 and c.4588C>T in exon37 were identified in FBN1.
Conclusions: We identified three novel mutations and four known mutations in FBN1 and found cysteine substitution highly related to EL. These results expand the mutation spectrum in FBN1 and enrich our knowledge of genotype-phenotype correlations due to FBN1 mutations. To our knowledge, it might be the first report of cysteine residue loss in the unique N-terminal domain of fibrillin-1.
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