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Table 1 Human diseases/phenotypes associated with Xq27.1 palindromic insertions

From: A 105 kb interstitial insertion in the Xq27.1 palindrome from pseudoautosomal region PAR1 causes a novel X-linked recessive compound phenotype

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
  1. ND not detected