Figure 2.
Genomic Structure and Mutation Analysis of FLNA
(A) c.5217G>A was confirmed by Sanger sequencing in all of the patients. The unaffected family members and controls carry the homozygous normal allele.
(B) The sequence of c.5850T>C in family 1.
(C) FLNA is located in Xq28, the target region of linkage analysis. c.5217G>A alters the last nucleotide of exon 31 of FLNA.