Table 1 Human diseases/phenotypes associated with Xq27.1 palindromic insertions
Diseases/phenotypes | Insertion origin | Insertion size | Genes within insertion | Insertion direction | Abnormal expressed genes | References |
|---|---|---|---|---|---|---|
Hypoparathyroidism | 2p25.3 | 305–340 kb | SNTG2 | Direct | ND | Bowl et al. [5] |
Congenital generalized hypertrichosis | 5q35.3 | 126 kb | COL23A | Direct | ND | Zhu et al. [4] |
Congenital generalized hypertrichosis | 4q31.2 | 300 kb | PRMT10, TMEM184C; ARHGAP10, EDNRA | Inverted | ND | Zhu et al. [4] |
Congenital generalized hypertrichosis | 6p21.2 and 3q21.1 | 386 kb and 56 bp | DAAM, KIF6 and FAM162A | Inverted | Decreased expression of FGF13 in skin | DeStefano et al. [7] |
Congenital bilateral isolated ptosis | 1p21.3 | 120 kb | DPYD | Direct | ND | Bunyan et al. [9] |
SRY-negative XX male sex reversal | 1q25.2–25.3 | 774 kb | ACBD6, XPR1, KIAA1614, STX6, OVAAL, MIR3121, LHX4 and MR1 | Direct | Increased expression of SOX3 | Haines et al. [8] |
Charcot–Marie–Tooth neuropathy CMTX3 | 8q24.3 | 78 kb | ARHGAP39 | Direct | Increased expression of FGF13 | Brewer et al. [6] |
X-linked recessive genu varum, cubitus valgus and characterized lip shape | Xp22.3/Yp11.32 | 105 kb | None | Direct | ND | Present study |