A novel homozygous mutation in the SLCO2A1 gene is associated with severe primary hypertrophic osteoarthropathy phenotype in a Saudi patient

被引：6

作者：

Ayoub, Nedhal ^{[1
]}

Al-Khenaizan, Sultan ^{[1
,4
]}

Sonbol, Haitham ^{[2
]}

Albreakan, Rakan ^{[3
]}

AlSufyani, Mohammed

AlBalwi, Mohammed ^{[4
,5
,6
]}

机构：

[1] King Abdul Aziz Med City, Natl Guard Hlth Affairs, Dept Dermatol, Riyadh, Saudi Arabia

[2] Prince Muhammad bin Abdulaziz Hosp, Dept Dermatol, Riyadh, Saudi Arabia

[3] Al Imam Muhammad Ibn Saud Islamic Univ, Dept Dermatol, Riyadh, Saudi Arabia

[4] Prince Sultan Mil Med City, Dept Dermatol, Riyadh, Saudi Arabia

[5] King Saud Bin Abdulaziz Univ Hlth Sci, Coll Med, Riyadh, Saudi Arabia

[6] King Abdul Aziz Med City, Natl Guard Hlth Affairs, Dept Pathol & Lab Med, Riyadh, Saudi Arabia

来源：

INTERNATIONAL JOURNAL OF DERMATOLOGY | 2015年 / 54卷 / 06期

关键词：

D O I：

10.1111/ijd.12770

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

引用

页码：E233 / E235

页数：3

共 7 条

[1]

Bedrikow Roberta Buense, 2007, An. Bras. Dermatol., V82, P477

[2] Pachydermoperiostosis: an update [J].

Castori, M ;

Sinibaldi, L ;

Mingarelli, R ;

Lachman, RS ;

Rimoin, DL ;

Dallapiccola, B .

CLINICAL GENETICS, 2005, 68 (06) :477-486

[3]

Johnston GA, 2008, FITZPATRICKS DERMATO, V7th, P1445

[4] Mutations in the prostaglandin transporter encoding gene SLCO2A1 Cause primary hypertrophic osteoarthropathy and isolated digital clubbing [J].

Seifert, Wenke ;

Kuehnisch, Jirko ;

Tueysuez, Beyhan ;

Specker, Christof ;

Brouwers, Ad ;

Horn, Denise .

HUMAN MUTATION, 2012, 33 (04) :660-664

[5] Mutation in the HPGD gene encoding NAD+ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC) [J].

Tariq, M. ;

Azeem, Z. ;

Ali, G. ;

Chishti, M. S. ;

Ahmad, W. .

JOURNAL OF MEDICAL GENETICS, 2009, 46 (01) :14-20

[6] Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy [J].

Uppal, Sandeep ;

Diggle, Christine P. ;

Carr, Ian M. ;

Fishwick, Colin W. G. ;

Ahmed, Mushtaq ;

Ibrahim, Gamal H. ;

Helliwell, Philip S. ;

Latos-Bielenska, Anna ;

Phillips, Simon E. V. ;

Markham, Alexander F. ;

Bennett, Christopher P. ;

Bonthron, David T. .

NATURE GENETICS, 2008, 40 (06) :789-793

[7] Exome Sequencing Identifies SLCO2A1 Mutations as a Cause of Primary Hypertrophic Osteoarthropathy [J].

Zhang, Zhenlin ;

Xia, Weibo ;

He, Jinwei ;

Zhang, Zeng ;

Ke, Yaohua ;

Yue, Hua ;

Wang, Chun ;

Zhang, Hao ;

Gu, Jiemei ;

Hu, Weiwei ;

Fu, Wenzhen ;

Hu, Yunqiu ;

Li, Miao ;

Liu, Yujuan .

AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 90 (01) :125-132

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