Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy
Küçük Resim Yok
Tarih
2009
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
SPRINGER HEIDELBERG
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Mutations in HPGD have recently been reported to cause primary hypertrophic osteoarthropathy (PHO), a rare genetic disease characterized by digital clubbing, pachydermia, and periostosis. We screened HPGD mutations in six patients from three unrelated Turkish families with PHO, in which we showed one previously reported, p.A140P, and one novel, p.M1L, homozygous mutations. Both mutations co-segregated with the phenotype in all three families and were absent in 100 Turkish controls. These results confirm the presence of biallelic HPGD mutations in patients with PHO in an independent series from a different population.
Açıklama
Anahtar Kelimeler
Autosomal recessive, Consanguinity, 15-Hydroxyprostaglandin dehydrogenase gene, Primary hypertrophic osteoarthropathy
Kaynak
RHEUMATOLOGY INTERNATIONAL
WoS Q Değeri
Q3
Scopus Q Değeri
Q2
Cilt
30
Sayı
1
