Table 2. Reported HPGD mutations

reference / mutation / predgree / Origin
UPPAL (2008) [1] / c.175_176delCT / 1 / Poland
c.232_241delinsCA / 1 / Bangladesh
c.418G＞C / 2 / Pakistan
TARIQ(2008) [2] / c.577T＞C / 1 / Pakistan
SEIFERT (2009)[3] / c.52G＞T / 1 / Turkey
c.120delA / 1 / Holland
YUKSEL-KONUK(2009)[4] / c.1A＞T / 1 / Turkey
c.418G＞C / 2 / Turkey
DIGGLE (2010)[5] / c.175_176delCT / 5 / Austria
Croatia
Italy
Holland
Germany
c.120delA / 3 / Holland
Austria
Croatia
c.325-1G＞C / 1 / Great Britain
SINIBALDI (2010)[6] / c.217+1G＞A / 1 / NA
BERGMANN (2011)[7] / c.175_176delCT / 1 / Germany
c.118G＞T / 1 / NA
c.563C＞T
ERKEN(2013) [8] / c.310_311delCT / 1 / Turkey
TUYSUZ(2014)[9] / c.310_311delCT / 1 / NA
WANG(2015)[10] / c.310_311delCT / 1 / China
NAKAZAWA(2015)[11] / c.422-1G>A / 1 / Japan

References:

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[2] Tariq M, Azeem Z, Ali G, et al. Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC)[J]. Journal of Medical Genetics. 2008, 46(1): 14-20.

[3] Seifert W, Beninde J, Hoffmann K, et al. HPGD mutations cause cranioosteoarthropathy but not autosomal dominant digital clubbing[J]. European Journal of Human Genetics. 2009, 17(12): 1570-1576.

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[6] Sinibaldi L, Harifi G, Bottillo I, et al. A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy[J]. Clin Exp Rheumatol. 2010, 28(2): 153-157.

[7] Bergmann C, Wobser M, Morbach H, et al. Primary hypertrophic osteoarthropathy with digital clubbing and palmoplantar hyperhidrosis caused by 15-PGHD/HPGD loss-of-function mutations[J]. Experimental Dermatology. 2011, 20(6): 531-533.

[8] Erken E, Köroğlu Ç, Yıldız F, et al. A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy[J]. Modern Rheumatology. 2014: 1-7.

[9] Tüysüz B, Yılmaz S, Kasapçopur Ö, et al. Primary hypertrophic osteoarthropathy caused by homozygous deletion in HPGD gene in a family: changing clinical and radiological findings with long-term follow-up[J]. Rheumatology International. 2014.

[10] Wang L, Yu J, Li Y, et al. [Genetic diagnosis for a Chinese Han family with primary hypertrophic osteoarthropathy][J]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015, 32(2): 213-217.

[11] Sakai T, Hatano Y, Matsuda-Hirose H, et al. Atopic dermatitis-like dermatitis emerges unevenly on different sites in flaky tail mice[J]. Journal of Dermatological Science. 2015, 78(2): 151-153.