Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy

Berrin Yüksel-Konuk, Asli SIrmacI, Gülen Ece Ayten, Mustafa Özdemir, Idil Aslan, Ülkü YIlmaz-Turay, Yurdanur Erdoǧan, Mustafa Tekin

Research output: Contribution to journalArticle

28 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)39-43
Number of pages5
JournalRheumatology International
Volume30
Issue number1
DOIs
StatePublished - Nov 1 2009
Externally publishedYes

Fingerprint

15-hydroxyprostaglandin dehydrogenase
Primary Hypertrophic Osteoarthropathy
Mutation
Genes
Inborn Genetic Diseases
Rare Diseases
Phenotype

Keywords

  • 15-Hydroxyprostaglandin dehydrogenase gene
  • Autosomal recessive
  • Consanguinity
  • Primary hypertrophic osteoarthropathy

ASJC Scopus subject areas

  • Rheumatology
  • Immunology
  • Immunology and Allergy

Cite this

Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. / Yüksel-Konuk, Berrin; SIrmacI, Asli; Ayten, Gülen Ece; Özdemir, Mustafa; Aslan, Idil; YIlmaz-Turay, Ülkü; Erdoǧan, Yurdanur; Tekin, Mustafa.

In: Rheumatology International, Vol. 30, No. 1, 01.11.2009, p. 39-43.

Research output: Contribution to journalArticle

Yüksel-Konuk, Berrin ; SIrmacI, Asli ; Ayten, Gülen Ece ; Özdemir, Mustafa ; Aslan, Idil ; YIlmaz-Turay, Ülkü ; Erdoǧan, Yurdanur ; Tekin, Mustafa. / Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy. In: Rheumatology International. 2009 ; Vol. 30, No. 1. pp. 39-43.
@article{5391fe929d684e6cb51a8f8cbf1148b5,
title = "Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy",
abstract = "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.",
keywords = "15-Hydroxyprostaglandin dehydrogenase gene, Autosomal recessive, Consanguinity, Primary hypertrophic osteoarthropathy",
author = "Berrin Y{\"u}ksel-Konuk and Asli SIrmacI and Ayten, {G{\"u}len Ece} and Mustafa {\"O}zdemir and Idil Aslan and {\"U}lk{\"u} YIlmaz-Turay and Yurdanur Erdoǧan and Mustafa Tekin",
year = "2009",
month = "11",
day = "1",
doi = "10.1007/s00296-009-0895-6",
language = "English",
volume = "30",
pages = "39--43",
journal = "Rheumatology International",
issn = "0172-8172",
publisher = "Springer Verlag",
number = "1",

}

TY - JOUR

T1 - Homozygous mutations in the 15-hydroxyprostaglandin dehydrogenase gene in patients with primary hypertrophic osteoarthropathy

AU - Yüksel-Konuk, Berrin

AU - SIrmacI, Asli

AU - Ayten, Gülen Ece

AU - Özdemir, Mustafa

AU - Aslan, Idil

AU - YIlmaz-Turay, Ülkü

AU - Erdoǧan, Yurdanur

AU - Tekin, Mustafa

PY - 2009/11/1

Y1 - 2009/11/1

N2 - 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.

AB - 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.

KW - 15-Hydroxyprostaglandin dehydrogenase gene

KW - Autosomal recessive

KW - Consanguinity

KW - Primary hypertrophic osteoarthropathy

UR - http://www.scopus.com/inward/record.url?scp=71349084135&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=71349084135&partnerID=8YFLogxK

U2 - 10.1007/s00296-009-0895-6

DO - 10.1007/s00296-009-0895-6

M3 - Article

VL - 30

SP - 39

EP - 43

JO - Rheumatology International

JF - Rheumatology International

SN - 0172-8172

IS - 1

ER -