Table 4 Correlation of AOH regions with autosomal recessive disorders
From: Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing
AR disorder | Genes related to diagnosis | Total AOH >10 Mb | Gene within AOH block | AOH size (Mb) | Comment |
|---|---|---|---|---|---|
Cohen syndrome | VSP13B | 29 | VSP13B | 11 | Homozygous exonic deletion detected |
HHH syndrome | SLC25A15 | 270 | SLC25A15 | 40 | Homozygous mutation in SLC25A15 detected |
SCID | 18 genes | 332 | CD3D | 8 | Homozygous mutation in CD3D detected |
Usher syndrome | Dozens of genes | 214 | USH2A | 18 |
