Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome.

ABSTRACT:

Unlabelled

The Hajdu-Cheney syndrome is a very rare disease that affects several organ system, leading to severe osteoporosis and other abnormalities. We describe clinical and genetic findings of nine patients with this disease.

Introduction

The Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disorder characterized by severe osteoporosis, acroosteolysis of the distal phalanges, renal cysts, and other abnormalities. Recently, heterozygous mutations in NOTCH2 were identified as the cause of HCS.

Methods

Nine patients with typical presentations of HCS took part in this study: five affected patients from two small families and four sporadic cases. Peripheral blood DNA was obtained and exome sequencing performed in one affected individual per family and in all fou

SUBMITTER: Zhao W 

PROVIDER: S-EPMC4037401 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature