Serpentine Fibula-Polycystic Kidney Syndrome Caused by Truncating Mutations in NOTCH2

被引：27

作者：

Isidor, Bertrand ^{[1
]}

Le Merrer, Martine ^{[2
]}

Exner, G. Ulrich ^{[3
]}

Pichon, Olivier ^{[1
]}

Thierry, Gaelle ^{[1
]}

Guiochon-Mantel, Anne ^{[4
,5
]}

David, Albert ^{[1
]}

Cormier-Daire, Valerie ^{[2
]}

Le Caignec, Cedric ^{[1
,6
,7
,8
]}

机构：

[1] CHU Nantes, Serv Genet Med, F-44093 Nantes, France

[2] Univ Paris 05, INSERM, U781, Dept Genet,Hop Necker Enfants Malad, Paris, France

[3] Orthopaedie Zentrum Zurich, Zurich, Switzerland

[4] Hop Bicetre, Assistance Publ Hop Paris, Lab Genet Mol Pharmacogenet & Hormonol, Le Kremlin Bicetre, France

[5] INSERM, U693, F-94275 Le Kremlin Bicetre, France

[6] Inst Thorax, INSERM, UMR915, Nantes, France

[7] CNRS, ERL3147, Nantes, France

[8] Univ Nantes, Nantes, France

来源：

HUMAN MUTATION | 2011年 / 32卷 / 11期

关键词：

SFPKS; serpentine fibula; polycystic kidneys; Hajdu-Cheney syndrome; NOTCH2; skeletal disorder; HAJDU-CHENEY-SYNDROME; MELNICK-NEEDLES SYNDROME; ALAGILLE-SYNDROME; SIGNALING PATHWAY; DISORDER; DISEASE; VARIANT; ENTITY;

D O I：

10.1002/humu.21563

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Serpentine fibula-polycystic kidney syndrome (SFPKS) is a rare disorder characterized by the association of craniofacial anomalies, radiological findings (wormian bones, elongated and bowed fibulae), polycystic kidneys, and normal intelligence. SFPKS shares many similarities with Hajdu-Cheney syndrome (HCS). We and others recently showed that truncating mutations in the last exon of NOTCH2 cause HCS. Here, we identify by Sanger sequencing two different heterozygous truncating mutations in the last exon of NOTCH2 in two unrelated patients with SFPKS. In one family, we show that the mutation occurred de novo. These findings demonstrate that SFPKS and HCS are both conditions caused by NOTCH2 mutations. Hum Mutat 32: 1239-1242, 2011. (C) 2011 Wiley Periodicals, Inc.

引用

页码：1239 / 1242

页数：4

共 25 条

[1] Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patients [J].