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. 2014 Sep 18;31(12):1573–1585. doi: 10.1007/s10815-014-0342-9

Table 2.

Genes on the X chromosome associated with POI. Superscripts correspond to the literature reference relating each gene with POI

Gene Locus Other diseases associated
CHM [21] Xq21.1-q21.3 Choroideremia
DIAPH2 [21] Xq21.33
DACH2 [21] Xq21.3 Allan-Herndon-Dudley syndrome
POF1B [21] Xq21.2
XPNPEP2 [21] Xq25 Angioedema
NXF5 [22] Xq22.1 Pelizaeus Merzbache disease, intelectual disability
FMR1 [26] Xq27.3 X fragile syndrome
FMR2 [35] Xq28 XE fragile syndrome, intellectual disability
XIST [10] Xq13.2 X inactivation, familial skewed, testicular cancer
CENP1 [20] Xq22.1 Scleroderma, liver disease
PGRMC1 [36] Xq22-q24 Placental choriocarcinoma, sphenoid sinusitis
AR [37] Xq12 Androgenin sensivity syndrome
FOXO4 [38] Xq13.1 Malignant spindle cell melanoma, X-linked dystonia-parkinsonism
AGTR2 [19] Xq22-23 Cerebrovascular accident, Conn’s syndrome
BHLHB9 [3] Xq22.1 Colon cancer, Alzheimer’s disease
BMP15 [39] Xp11.2 Turner syndrome
ZFX [10] Xp22.1-21.3 Retinoschisis, Turner syndrome
SHOX [40] Xp22.33 Leri weill dyschondrosteosis, Turner syndrome