Table 4.
Genomic rearrangement in selected Mendelian disorders
| Disorders | Inheritance | Chromosome location | Gene | Rearrangement | Recombination substrates | |||
|---|---|---|---|---|---|---|---|---|
| Type | Size(kb) | Repeat Size (kb) | Identity(%) | Orientation | ||||
| Bartter syndrome type III | AD | 1p36 | CLCNKA/8 | del | 11 | 91 | D | |
| Gaucher disease | AR | 1q21 | GBA | del | 16 | 14 | D | |
| Familial juvenile nephronophthisis | AR | 2q13 | NPHP1 | del | 290 | 45 | >97 | D |
| Facioscapulohumeral muscular dystrophy | AD | 4q35 | FRG1? | Del | 25–222 | 3.3 | D | |
| Spinal muscular dystrophy | AR | 5q13.2 | SMN | inv/dup | 500 | I | ||
| Congenital adrenal hyperplasia-21 hydroxylase deficiency | AR | 6p21.3 | CYP21 | del | 30 | 96–98 | D | |
| Glucorticoid remediable aldosteronism | AD | 8q21 | CYP11B1/2 | dup | 45 | 10 | 95 | D |
| β-Thalassemia | AR | 11p15.5 | β-globin | del | 4,(7)? | D | ||
| α-Thalassemia | AR | 16p13.3 | α-globin | del | 3,7,4.2? | 4 | D | |
| Polycystic kidney disease type 1 | AD | 16p13.3 | PKD1 | 50 | 95 | |||
| Charcot-Marie-Tooth (CMT1A) | AD | 17p12 | PMP22 | dup | 1400 | 24 98 | 7 | D |
| Hereditary neuropathy with liability to pressure palsy(HNPP) | AD | 17p12 | PMP22 | del | 1400 | 24 | 98.7 | D |
| Neurofibromatosis type 1(NF1) | AD | 17q11.2 | NF1 | del | 1500 | 85 | D | |
| Pituitary dwarfism | AR | 17q23.3 | GH1 | del | 6.7 | 2.24 | 99 | D |
| CYP2D6-phramcogenetic trait | AR | 22q13.1 | CYP2D6 | del/dup | 9.3 | 2.8 | ||
| Ichthyosis | XL | Xq28 | STS | del | 1900 | 20 | D | |
| Red–green colour blindness | XL | Xq28 | RCP/GCP | del | 0 | 39 | 98 | D |
| Incontinentia pigmenti | XL | Xq28 | NEMO | del | 10 | 0.870 | D | |
| Hemophilia A | XL | Xq28 | F8 | inv | 300-500 | 9.5 | 99.9 | I |
| Emery-Dreifuss muscular Dystrophy (EMD) | XL | Xq28 | Emerin/FLN1 | del/dup/inv | 48 | 11.3 | 99.2 | |
| Hunter syndrome | XL | Xq28 | IDS | inv/del | 20 | 3 | >88 | |
del, deletion; dup, duplication; inv, inversion; D, direct; C, complex; I, inverted