Figure 1.

Pedigrees and Genetic Results. (a)Family 1 pedigree and ECM1 chromatogram showing a homozygous two base deletion detected in affected family members. b) Family 2 pedigree and ECM1 chromatogram showing a homozygous base substitution in both affected individuals (II-3 and II-6) and heterozygous base substitution in their mother. Similar heterozygous results were also found in father (II-1) and an unaffected sibling (II-4) but are not shown. c) Family 3 pedigree with photograph of a 1.5% agarose gel showing failed amplification of exons 9 and 10 in all affected individuals but not in their mother or unaffected brother. Forward primer was designed in intron 8 and the reverse primer was designed in intron 10.