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

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

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