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

Table 4.

Novel candidate POI genes identified by the genome-wide approach. Superscripts correspond to the literature reference relating each gene with POI

Gene Initials Locus
PTHB1 [81] Parathiroid-Hormone Responsive B1 7p14
BCKDHB [82] Branched Chain Keto Acid Dehydrogenase E1, Beta Polypeptide 6q14.1
ACSL6 [83] Acyl-CoA Synthetase Long-Chain Family Member 6 5q31
HK3 [84] Hexokinase 3 5q35.2
BRSK1 [84] BR Serine/Threonine Kinase 1 19q13.4
ADAMTS19 [85] ADAM Metallopeptidase With Thrombospondin Type 1 Motif, 19 5q23.3
LAMC1 [86] Laminin, Gamma 1 (Formerly LAMB2) 1q31
PCMT1 [87] Protein-L-Isoaspartate (D-Aspartate) O-Methyltransferase 6q24-q25
DNAH5 [88] Dynein, Axonemal, Heavy Chain 5 5p15.2
NAIP [88] NLR Family, Apoptosis Inhibitory Protein 5q13.2
DUSP22 [88] Dual SpecificityPhosphatase 22 6p25.3
NUPR1 [88] Nuclear Protein, TranscriptionalRegulator, 1 16p11.2
AKT1 [88] V-Akt Murine Thymoma Viral Oncogene Homolog 1 14q32.32
UTP14A [89] U3 Small NucleolarRibonucleoprotein, Homolog A Xq26.1
PCDH19 [89] Protocadherin 19 Xq13.3
VCX [89] Variable Charge, X-Linked Xp22
STS [89] Steroid Sulfatase (Microsomal), Isozyme S Xp22.32
BCORL1 [89] BCL6 Corepressor-Like 1 Xq26.1
TSPAN7 [89] Tetraspanin 7 Xp11.4
AIFM1 [89] Apoptosis-Inducing Factor, Mitochondrion-Associated, 1 Xq26.1
SYCE1 [90, 91] Synaptonemal Complex Central Element Protein 1 10q26.3
CPEB1 [91] Cytoplasmic Polyadenylation Element Binding Protein 1 15q25.2
CCBE1 [91] Collagen And Calcium Binding EGF Domains 1 18q21.32
PMAIP1 [91] Phorbol-12-Myristate-13-Acetate-Induced Protein 1 18q21.32
CTNNA3 [91] Catenin (Cadherin-Associated Protein), Alpha 3 10q21.3
ANKRD22 [91] AnkyrinRepeatDomain 22 10q23.31
STAMBPL1 [91] STAM BindingProtein-Like 1 10q23.31
HSD3B2 [91] Hydroxy-Delta-5-Steroid Dehydrogenase, 3-Betaand Steroid Delta-Isomerase2 1p12
HAO2 [91] Hydroxyacid Oxidase 2 (Long Chain) 1p12
CYP2E1 [90] Cytochrome P450, Family 2, Subfamily E, Polypeptide 1 10q26.3
NRXN1 [90] Neurexin 1 2p16.3
PARK2 [90] Parkin RBR E3 UbiquitinProtein Ligase 6q26
CARD11 [90] Caspase Recruitment Domain Family, Member 11 7p22.2
DHFR [74] DihydrofolateReductase 5q14.1
NR2F1 [74] Nuclear Receptor Subfamily 2, Group F, Member 1 5q14
MEF2C [74] MADS Box Transcription Enhancer Factor 2, Polypeptide C 5q14.3
CCNH [74] Cyclin H 5q13.3-q14
SSBP2 [74] Single-Stranded DNA Binding Protein 2 5q14.1
CSPG2 [74] Chondroitin Sulfate Proteoglycan 2 5q14.2
EIF4ENIF1 [75] Eukaryotic Translation Initiation Factor 4E Nuclear Import Factor 1 22q12.2
DLX5 [76] Distal-LessHomeobox 5 7q21.3
DLX6 [76] Distal-Less Homeobox 6 7q21.3
DSS1 [76] Split Hand/Foot Malformation (Ectrodactyly) Type 1 7q21.3
STAG3 [77] Stromal Antigen 3 7q22.1