Fig. 1.

(A) The shared haplotypes are demonstrated, assuming the minimum number of recombinations. Green boxes indicate reference sequence, whereas blue boxes indicate the polymorphic variant. The HMERF mutation is indicated by red boxes. The UK common haplotype represented here is the shared haplotype in 5 of 8 reported UK families, although a black box in this column indicates the core haplotype of 171 kbp which is shared by all 8 families. Family B (India) does not share the haplotype. The column for Family C (Spain) indicates the compatible shared haplotype with UK families (outlined by a black box). (B) Sequencing chromatograph demonstrating the cloned disease allele from the 119th FN3 domain in Family B. The amber band indicates the reference sequence. The upper trace is the region immediately surrounding the HMERF mutation c.90211T>C (p.C30071R) (indicated by a red arrow). The novel noncoding variant c.90225C>T is on the same allele as the mutation and indicated by a black arrow. The lower trace is the sequence immediately surrounding the other heterozygous variant, c.90374C>T (a.k.a: rs191484894) which also segregated with the disease mutation on the same allele.