A Novel Mutation of Notch homolog protein 2 gene in a Chinese Family with Hajdu-Cheney Syndrome

Abstract

Hajdu-Cheney syndrome (HCS) is a rare disorder which is characterized by developmental delay, craniofacial anomalies, congenital heart defects, hearing deficit, polycystic kidneys, and bone abnormalities, including progressive osteoporosis, acroosteolysis, wormian bones, and abnormal bone fractures. [2] Skull radiographs detected wormian bones [Figure 1]g and [Figure 1]h. No acroosteolysis or brachydactyly of hands was observed [Figure 1]e. His T-Score was -5 (normal value > -1), suggesting that his bone mineral density was far below the expected values for his age. Because of his recurrent infection and elevated IgE level, Igs test, IgE radioallergosorbent test (RAST), and lymphocyte subset test were done to evaluate his immunological function. [...]we reported the clinical and radiologic findings of the HCS family with a novel insertion mutation in exon 34 of NOTCH2.