PMC

a Pedigree of the family described in this study. Clinical details for patients V:1 and V:2 are provided in the text. Individuals with red asterisks underneath were utilized for linkage analysis. b Genome-wide linkage analysis using the Affymetrix Axiom microarray platform and EasyLinkage v5.08 software revealed a single maximal peak on chromosome 8 with a LOD score of 4.2. Inset: chromosome-specific display showing close-up of linkage region on chromosome 8. c Overlap of the linkage interval in this study (in red) with the one previously published by Al-Yahyaee et al. [] (in blue) refined the critical interval to a region flanked by the FUT10 and ZMAT4 genes. Physical position of markers is based on the 2006 assembly (hg18). The dashed curly bracket indicates the 20 kb deleted region, along with the approximate breakpoint positions and the genes affected. d Electrophoresis gel image showing results of RT-PCR conducted on two patients (V:1, V:2 from A), two obligate carriers (IV:9, IV:10), one normal control and one negative control containing no template. The GAPDH data confirms presence of cDNA in patient samples