Hajdu-Cheney syndrome: phenotypical progression with de-novo NOTCH2 mutation

被引：28

作者：

Descartes, Maria ^{[1
,2
]}

Rojnueangnit, Kitiwan ^{[1
]}

Cole, Laura ^{[1
]}

Sutton, Amelia ^{[1
,3
]}

Morgan, Sarah L. ^{[4
,5
]}

Patry, Lysanne ^{[6
]}

Samuels, Mark E. ^{[6
,7
]}

机构：

[1] Univ Alabama Birmingham, Dept Genet, Birmingham, AL 35294 USA

[2] Univ Alabama Birmingham, Dept Pediat, Birmingham, AL 35294 USA

[3] Univ Alabama Birmingham, Dept Obstet & Gynecol, Div Maternal Fetal Med, Birmingham, AL 35294 USA

[4] Univ Alabama Birmingham, Dept Med, Birmingham, AL 35294 USA

[5] Univ Alabama Birmingham, UAB Osteoporosis Prevent & Treatment Clin, Div Clin Immunol & Rheumatol, Birmingham, AL 35294 USA

[6] Univ Montreal, Dept Med, Res Ctr, Ste Justine Hosp, Montreal, PQ H3C 3J7, Canada

[7] Univ Montreal, Dept Med, Montreal, PQ H3C 3J7, Canada

来源：

CLINICAL DYSMORPHOLOGY | 2014年 / 23卷 / 03期

关键词：

POLYCYSTIC KIDNEY SYNDROME; TRUNCATING MUTATIONS; SEVERE OSTEOPOROSIS; DISORDER; PATIENT; HEART; EXON; GENE;

D O I：

10.1097/MCD.0000000000000034

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：88 / 94

页数：7

共 19 条

[1]

Brennan AM, 2001, AM J MED GENET, V100, P292, DOI 10.1002/1096-8628(20010515)100:4<292::AID-AJMG1308>3.0.CO

[2]

2-4

[3]

CHENEY WD, 1965, AMER J ROENTGENOL RA, V94, P595

[4]

Galli-Tsinopoulou A, 2012, MINERVA ENDOCRINOL, V32, P283

[5] Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome [J].

Gray, Mary J. ;

Kim, Chong Ae ;

Bertola, Debora Romeo ;

Arantes, Paula Ricci ;

Stewart, Helen ;

Simpson, Michael A. ;

Irving, Melita D. ;

Robertson, Stephen P. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2012, 20 (01) :122-124

[6] A mutation in NOTCH2 gene in a Chinese patient with Hajdu-Cheney syndrome [J].

Gu, Jie-mei ;

Hu, Yun-qiu ;

Zhang, Hao ;

Wang, Chun ;

Hu, Wei-wei ;

Yue, Hua ;

Liu, Yu-juan ;

Zhang, Zhen-lin .

JOINT BONE SPINE, 2013, 80 (05) :548-549

[7] CRANIO-SKELETAL DYSPLASIA [J].

HAJDU, N ;

KAUNTZE, R .

BRITISH JOURNAL OF RADIOLOGY, 1948, 21 (241) :42-48

[8] Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis [J].

Isidor, Bertrand ;

Lindenbaum, Pierre ;

Pichon, Olivier ;

Bezieau, Stephane ;

Dina, Christian ;

Jacquemont, Sebastien ;

Martin-Coignard, Dominique ;

Thauvin-Robinet, Christel ;

Le Merrer, Martine ;

Mandel, Jean-Louis ;

David, Albert ;

Faivre, Laurence ;

Cormier-Daire, Valerie ;

Redon, Richard ;

Le Caignec, Cedric .

NATURE GENETICS, 2011, 43 (04) :306-308

[9] NOTCH2 mutations in Alagille syndrome [J].

Kamath, Binita Maya ;

Bauer, Robert C. ;

Loomes, Kathleen M. ;

Chao, Grace ;

Gerfen, Jennifer ;

Hutchinson, Anne ;

Hardikar, Winita ;

Hirschfield, Gideon ;

Jara, Paloma ;

Krantz, Ian D. ;

Lapunzina, Pablo ;

Leonard, Laura ;

Ling, Simon ;

Ng, Vicky Lee ;

Phuc Le Hoang ;

Piccoli, David A. ;

Spinner, Nancy Bettina .

JOURNAL OF MEDICAL GENETICS, 2012, 49 (02) :138-144

[10] Severe osteoporosis in familial Hajdu-Cheney syndrome: Progression of acro-osteolysis and osteoporosis during long-term follow-up [J].

Leidig-Bruckner, G ;

Pfeilschifter, J ;

Penning, N ;

Limberg, B ;

Priemel, M ;

Delling, G ;

Ziegler, R .

JOURNAL OF BONE AND MINERAL RESEARCH, 1999, 14 (12) :2036-2041

← 1 2 →